MCID: CNG486
MIFTS: 30

Congenital Disorders of N-Linked Glycosylation and Multiple Pathway

Aliases & Classifications for Congenital Disorders of N-Linked Glycosylation and Multiple...

MalaCards integrated aliases for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:

Name: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 24
Carbohydrate-Deficient Glycoprotein Syndromes 24
Congenital Disorders of Glycosylation 71
Cdg Syndromes 24

External Ids:

UMLS 71 C0282577

Summaries for Congenital Disorders of N-Linked Glycosylation and Multiple...

MalaCards based summary : Congenital Disorders of N-Linked Glycosylation and Multiple Pathway, also known as carbohydrate-deficient glycoprotein syndromes, is related to congenital disorder of glycosylation, type iim and congenital disorder of glycosylation, type ie. An important gene associated with Congenital Disorders of N-Linked Glycosylation and Multiple Pathway is ALG1 (ALG1 Chitobiosyldiphosphodolichol Beta-Mannosyltransferase), and among its related pathways/superpathways are Metabolism and Metabolism of proteins. The drugs Protein C and Thrombin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

GeneReviews: NBK1332

Related Diseases for Congenital Disorders of N-Linked Glycosylation and Multiple...

Diseases related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 135, show less)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type iim 30.7 ALG3 ALG2 ALG1
2 congenital disorder of glycosylation, type ie 30.7 ALG6 ALG2 ALG13 ALG12 ALG11
3 congenital disorder of glycosylation, type iij 29.9 ALG2 ALG12
4 congenital disorder of glycosylation, type iif 29.8 ALG2 ALG1
5 congenital disorder of glycosylation, type iid 29.6 ALG2 ALG12
6 congenital disorder of glycosylation, type iig 29.6 ALG2 ALG12 ALG11
7 congenital disorder of glycosylation, type iib 29.6 ALG2 ALG12 ALG1
8 congenital disorder of glycosylation, type iik 29.5 ALG6 ALG2 ALG11
9 congenital disorder of glycosylation, type iih 29.4 ALG3 ALG2
10 congenital disorder of glycosylation, type iia 29.1 ALG3 ALG2 ALG1
11 congenital disorder of glycosylation, type iii 29.0 ALG6 ALG3 ALG2
12 immunodeficiency 47 27.7 ALG6 ALG3 ALG2 ALG12 ALG11 ALG1
13 congenital disorder of glycosylation, type in 27.1 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
14 cog5-congenital disorder of glycosylation 11.8
15 epileptic encephalopathy, early infantile, 50 11.7
16 congenital disorder of glycosylation, type iin 11.6
17 congenital disorder of glycosylation, type iio 11.6
18 congenital disorder of glycosylation, type iip 11.6
19 man1b1-cdg 11.6
20 alg6-congenital disorder of glycosylation 11.6
21 congenital disorder of glycosylation, type if 11.5
22 congenital disorder of glycosylation, type ix 11.5
23 alg1-congenital disorder of glycosylation 11.5
24 phosphomannoisomerase deficiency 11.5
25 congenital disorder of glycosylation, type iil 11.2
26 peho syndrome 11.1
27 epileptic encephalopathy, early infantile, 36 11.0
28 congenital disorder of glycosylation, type iw 11.0
29 slc35a2-congenital disorder of glycosylation 11.0
30 ataxia and polyneuropathy, adult-onset 10.5
31 cerebellar hypoplasia 10.5
32 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.4
33 autosomal recessive disease 10.4
34 hemopericardium 10.4
35 pericardial effusion 10.4
36 olivopontocerebellar atrophy 10.4
37 hypotonia 10.4
38 retinitis pigmentosa 10.3
39 neuroretinitis 10.3
40 protein-losing enteropathy 10.3
41 retinitis 10.3
42 polyneuropathy 10.3
43 peripheral nervous system disease 10.3
44 neuropathy 10.3
45 hypoglycemia 10.3
46 strabismus 10.2
47 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.2
48 mechanical strabismus 10.2
49 esotropia 10.2
50 leukocyte adhesion deficiency, type i 10.2
51 congenital disorder of glycosylation, type ia 10.2
52 congenital disorder of glycosylation, type iic 10.2
53 congenital disorder of glycosylation, type iy 10.2
54 congenital disorder of glycosylation, type id 10.2
55 congenital disorder of glycosylation, type ib 10.2
56 congenital disorder of glycosylation, type ic 10.2
57 congenital disorder of glycosylation, type ig 10.2
58 congenital disorder of glycosylation, type ij 10.2
59 congenital disorder of glycosylation, type ih 10.2
60 congenital disorder of glycosylation, type ik 10.2
61 congenital disorder of glycosylation, type il 10.2
62 congenital disorder of glycosylation, type im 10.2
63 congenital disorder of glycosylation, type iq 10.2
64 muscular dystrophy-dystroglycanopathy , type c, 15 10.2
65 congenital disorder of glycosylation, type ip 10.2
66 congenital disorder of glycosylation, type ir 10.2
67 congenital disorder of glycosylation, type it 10.2
68 congenital disorder of glycosylation, type iu 10.2
69 autosomal recessive non-syndromic intellectual disability 10.2
70 atrial standstill 1 10.1
71 thrombophilia due to thrombin defect 10.1
72 congenital disorder of glycosylation, type i/iix 10.1
73 dandy-walker syndrome 10.1
74 monocular esotropia 10.1
75 microcephaly 10.1
76 nephrotic syndrome 10.1
77 hypothyroidism 10.1
78 hypogonadism 10.1
79 inherited metabolic disorder 10.1
80 cataract 10.1
81 retinal degeneration 10.1
82 pathologic nystagmus 10.1
83 mitochondrial disorders 10.1
84 congenital hepatic fibrosis 10.1
85 alcohol dependence 10.0
86 syringomyelia, noncommunicating isolated 10.0
87 fructose intolerance, hereditary 10.0
88 hydrops fetalis, nonimmune 10.0
89 ocular motor apraxia 10.0
90 budd-chiari syndrome 10.0
91 branchiootic syndrome 1 10.0
92 abdominal obesity-metabolic syndrome 1 10.0
93 hyperprolactinemia 10.0
94 joint laxity, short stature, and myopia 10.0
95 brachydactyly 10.0
96 apraxia 10.0
97 pontocerebellar hypoplasia 10.0
98 disseminated intravascular coagulation 10.0
99 myopia 10.0
100 hypertrophic cardiomyopathy 10.0
101 diarrhea 10.0
102 hyperinsulinemic hypoglycemia 10.0
103 congenital dyserythropoietic anemia 10.0
104 alcohol use disorder 10.0
105 thrombocytopenia 10.0
106 pericarditis 10.0
107 status epilepticus 10.0
108 dysostosis 10.0
109 hyperinsulinism 10.0
110 familial nephrotic syndrome 10.0
111 newcastle disease 10.0
112 syringomyelia 10.0
113 liver disease 10.0
114 mitochondrial metabolism disease 10.0
115 night blindness 10.0
116 fundus dystrophy 10.0
117 peroxisomal disease 10.0
118 viral infectious disease 10.0
119 cholangitis 10.0
120 48,xyyy 10.0
121 chromosomal triplication 10.0
122 diffuse mesangial sclerosis 10.0
123 mosaic trisomy 7 10.0
124 inherited thyroxine-binding globulin deficiency 10.0
125 posttransplant acute limbic encephalitis 10.0
126 inherited retinal disorder 10.0
127 premature aging 10.0
128 lysosomal storage disease with skeletal involvement 10.0
129 visual epilepsy 9.9
130 thrombophilia 9.9
131 protein c deficiency 9.9
132 seizure disorder 9.9
133 congenital muscular dystrophy-dystroglycanopathy type a2 9.7 ALG6 ALG2
134 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 9.2 ALG6 ALG3
135 walker-warburg syndrome 8.9 ALG3 ALG2 ALG11 ALG1

Graphical network of the top 20 diseases related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:



Diseases related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway

Symptoms & Phenotypes for Congenital Disorders of N-Linked Glycosylation and Multiple...

GenomeRNAi Phenotypes related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

26 (showing 35, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.88 ALG1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.88 ALG1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.88 ALG1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.88 ALG1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.88 ALG6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.88 ALG1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.88 ALG6
8 Increased shRNA abundance (Z-score > 2) GR00366-A-142 9.88 ALG1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.88 ALG12
10 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.88 ALG12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.88 ALG1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.88 ALG6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.88 ALG1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-171 9.88 ALG1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.88 ALG12
16 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.88 ALG1 ALG6
17 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.88 ALG6
18 Increased shRNA abundance (Z-score > 2) GR00366-A-184 9.88 ALG6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.88 ALG6
20 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.88 ALG1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.88 ALG12
22 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.88 ALG1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.88 ALG6
24 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.88 ALG12
25 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.88 ALG6
26 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.88 ALG1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.88 ALG6
28 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.88 ALG12
29 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.88 ALG12
30 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.88 ALG1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.88 ALG1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.88 ALG6
33 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.88 ALG1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.88 ALG6
35 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.88 ALG12

Drugs & Therapeutics for Congenital Disorders of N-Linked Glycosylation and Multiple...

Drugs for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 9, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Protein C Approved
2
Thrombin Approved, Investigational
3
Azacitidine Approved, Investigational 320-67-2 9444
4 Antithrombins
5 Antithrombin III
6 Hemostatics
7 Fibrin fragment D
8 Thromboplastin
9 protein S

Interventional clinical trials:

(showing 9, show less)
# Name Status NCT ID Phase Drugs
1 Using D-Galactose as a Food Supplement in Congenital Disorders of Glycosylation Recruiting NCT02955264 Phase 2
2 "Incidence and Consequences of Disorders of Glycosylation in Patients With Conotruncal and Septal Heart Defects" (CARDIoG) Unknown status NCT02503267
3 Role of the Endothelium in Stroke-like Episode Among CDG Patients Completed NCT03250728
4 Evaluation of Global Coagulation Balance of 57 Patients With Congenital Disorder of Glycosylation Using the Thrombin Generation Assay Completed NCT03560570
5 Sialic Acid Supplementation in NANS Deficiency: An Open-label, Proof of Concept, Two-centers Study Completed NCT03545568
6 Dietary Monosaccharide Supplementation in Patients With Congenital Disorders of Glycosylation Recruiting NCT04198987
7 Clinical and Basic Investigations Into Congenital Disorders of Glycosylation Recruiting NCT04199000
8 Clinical and Basic Investigations Into Known and Suspected Congenital Disorders of Glycosylation Recruiting NCT02089789
9 Large-Scale Metabolomic Profiling for the Diagnosis of Inborn Errors of Metabolism Active, not recruiting NCT04201067

Search NIH Clinical Center for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway

Genetic Tests for Congenital Disorders of N-Linked Glycosylation and Multiple...

Anatomical Context for Congenital Disorders of N-Linked Glycosylation and Multiple...

MalaCards organs/tissues related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:

40
Liver, Heart, Testes, Skin, Brain, Eye, Bone

Publications for Congenital Disorders of N-Linked Glycosylation and Multiple...

Articles related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway:

(showing 705, show less)
# Title Authors PMID Year
1
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. 61 24
26931382 2016
2
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. 24 61
27343064 2016
3
ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation. 61 24
26126960 2015
4
Expanding the Molecular and Clinical Phenotype of SSR4-CDG. 61 24
26264460 2015
5
ALG8-CDG: novel patients and review of the literature. 61 24
26066342 2015
6
Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. 61 24
24784932 2015
7
Skin manifestations in CDG. 24 61
24554337 2014
8
Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. 24 61
24982104 2014
9
Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. 61 24
24144945 2013
10
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. 61 24
24115232 2013
11
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. 61 24
23856421 2013
12
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation. 24 61
23890587 2013
13
Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. 61 24
23842455 2013
14
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 24 61
24035193 2013
15
COG5-CDG: expanding the clinical spectrum. 24 61
23228021 2012
16
DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. 24 61
23109149 2012
17
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. 24 61
22492991 2012
18
DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype. 61 24
22786653 2012
19
TMEM165 deficiency causes a congenital disorder of glycosylation. 24 61
22683087 2012
20
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 61 24
22304930 2012
21
Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. 61 24
22213132 2012
22
DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. 24 61
22305527 2012
23
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. 61 24
22242004 2011
24
Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). 24 61
21334936 2011
25
Identification of the first COG-CDG patient of Indian origin. 61 24
21185756 2011
26
Congenital disorders of glycosylation. 61 24
21175687 2010
27
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 24 61
20852264 2010
28
Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. 24 61
20679665 2010
29
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation. 24 61
20605848 2010
30
SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 24 61
20637498 2010
31
A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. 24 61
20080937 2010
32
RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. 24 61
19856127 2009
33
Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. 24 61
19690088 2009
34
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. 24 61
19648040 2009
35
RFT1 deficiency in three novel CDG patients. 61 24
19701946 2009
36
The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). 24 61
19272306 2009
37
The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. 61 24
19101627 2009
38
Congenital disorders of glycosylation: a rare cause of nephrotic syndrome. 24 61
19474279 2009
39
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. 24 61
19576565 2009
40
Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia. 24 61
18485644 2009
41
Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose. 24 61
19065443 2008
42
Congenital disorders of glycosylation: rapidly enlarging group of (neuro)metabolic disorders. 24 61
17959325 2007
43
Screening and diagnosis of congenital disorders of glycosylation. 61 24
17716641 2007
44
Characterization of transferrin glycoforms in human serum by CE-UV and CE-ESI-MS. 24 61
17523137 2007
45
Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. 24 61
17506107 2007
46
Molecular and clinical characterization of a Moroccan Cog7 deficient patient. 61 24
17395513 2007
47
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. 24 61
17158594 2007
48
A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings. 61 24
16641202 2006
49
Use of serum on Guthrie cards in screening for congenital disorders of glycosylation. 61 24
16595835 2006
50
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder. 61 24
16151902 2005
51
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion. 24 61
15520415 2004
52
Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. 24 61
15148656 2004
53
Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). 24 61
15235028 2004
54
Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 61 24
15107842 2004
55
Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. 61 24
14973778 2004
56
Glycobiology of neuromuscular disorders. 24 61
12736200 2003
57
A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. 61 24
12684507 2003
58
Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. 61 24
12756558 2003
59
A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. 24 61
12480927 2003
60
Congenital disorders of glycosylation: a review. 24 61
12409504 2002
61
ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg. 61 24
12217961 2002
62
Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. 24 61
11983712 2002
63
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. 61 24
11733564 2001
64
Congenital disorders of glycosylation: the rapidly growing tip of the iceberg. 24 61
11723393 2001
65
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications. 24 61
11596651 2001
66
Congenital disorders of glycosylation. 24 61
11701646 2001
67
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). 61 24
11058895 2000
68
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. 24 61
11003549 1999
69
DMP1-CDG (CDG1e) with Significant Gastrointestinal Manifestations; Phenotype and Genotype Expansion. 24
27481510 2017
70
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. 24
27287710 2016
71
Further Delineation of the ALG9-CDG Phenotype. 24
26453364 2016
72
Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment. 24
26502900 2015
73
Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation. 24
25052310 2015
74
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. 24
24589341 2014
75
Glycosylation, hypogammaglobulinemia, and resistance to viral infections. 24
24716661 2014
76
RFT1-CDG in adult siblings with novel mutations. 24
23111317 2012
77
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. 24
22522420 2012
78
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. 24
21739581 2011
79
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. 24
21763484 2011
80
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. 24
20700148 2011
81
Golgi function and dysfunction in the first COG4-deficient CDG type II patient. 24
19494034 2009
82
CDG nomenclature: time for a change! 24
19765534 2009
83
Muscle glycogenosis due to phosphoglucomutase 1 deficiency. 24
19625727 2009
84
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. 24
18455129 2008
85
Development of liver disease despite mannose treatment in two patients with CDG-Ib. 24
17945525 2008
86
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. 24
17451957 2007
87
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. 24
17356545 2007
88
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. 24
17220172 2007
89
A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. 24
17273964 2007
90
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype). 24
17186415 2007
91
Genetic defects in the human glycome. 24
16755287 2006
92
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. 24
16537452 2006
93
Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. 24
16601903 2006
94
Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration. 24
16361681 2006
95
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. 24
16356445 2005
96
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient. 24
16007612 2005
97
CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. 24
15945070 2005
98
Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. 24
15576474 2005
99
Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. 24
15639192 2005
100
Congenital disorder of glycosylation (CDG) Ig: report on a patient and review of the literature. 24
16435218 2005
101
Abnormal glycosylation of red cell membrane band 3 in the congenital disorder of glycosylation Ig. 24
12736397 2003
102
Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig. 24
12093361 2002
103
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. 24
12116250 2002
104
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathy. 24
11930273 2002
105
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. 24
12434892 2002
106
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). 24
11733556 2001
107
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose. 24
11567948 2001
108
Carbohydrate-deficient glycoprotein syndrome: beyond the screen. 24
10896303 2000
109
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. 24
10788335 2000
110
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. 24
10586187 1999
111
Correction of leukocyte adhesion deficiency type II with oral fucose. 24
10590041 1999
112
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. 24
10484808 1999
113
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. 24
9585601 1998
114
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. 24
9525984 1998
115
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. 24
9535779 1998
116
Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. 24
7527215 1994
117
Biological roles of oligosaccharides: all of the theories are correct. 24
8490246 1993
118
Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome. 24
1293380 1992
119
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. 61
32389449 2020
120
A new role for dolichol isoform profile in the diagnostics of CDG disorders. 61
32289257 2020
121
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. 61
32407885 2020
122
Wilson disease. 61
32520802 2020
123
Research advances on neurite outgrowth inhibitor B receptor. 61
32542927 2020
124
Prenatal and postnatal phenotype of a pathologic variant in the ATP6AP1 gene. 61
32058063 2020
125
Peeling of skin as presenting manifestation in congenital disorders of glycosylation. 61
32525245 2020
126
Screening for abnormal glycosylation in a cohort of adult liver disease patients. 61
32557671 2020
127
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. 61
32198969 2020
128
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation. 61
32267060 2020
129
B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature. 61
32157688 2020
130
CDG biochemical screening: Where do we stand? 61
32512173 2020
131
Pontocerebellar Hypoplasia: a Pattern Recognition Approach. 61
32410094 2020
132
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function. 61
32293671 2020
133
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect. 61
32306098 2020
134
Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams. 61
31925597 2020
135
1H, 13C, 15N resonance assignments and secondary structure of yeast oligosaccharyltransferase subunit Ost4 and its functionally important mutant Ost4V23D. 61
32328881 2020
136
Structural Insight into the Mechanism of N-Linked Glycosylation by Oligosaccharyltransferase. 61
32316603 2020
137
The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells. 61
32047108 2020
138
Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells. 61
31415112 2020
139
Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. 61
31898852 2020
140
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. 61
31705726 2020
141
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation. 61
32216104 2020
142
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. 61
31420886 2020
143
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. 61
32019583 2020
144
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. 61
32064623 2020
145
Congenital disorders of glycosylation as an unusual cause of antithrombin deficiency and elevated thrombin generation. 61
31736265 2020
146
Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. 61
31534212 2020
147
Novel mutation and severe respiratory failure in congenital disorders of glycosylation Type Ix. 61
32253875 2020
148
Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation. 61
32547898 2020
149
XMEN: welcome to the glycosphere. 61
31815737 2020
150
CDG and immune response: From bedside to bench and back. 61
31095764 2020
151
ALG12-CDG: novel glycophenotype insights endorse the molecular defect. 61
31529350 2019
152
Hypothesis: determining phenotypic specificity facilitates understanding of pathophysiology in rare genetic disorders. 61
31804708 2019
153
Ocular abnormalities in a patient with congenital disorder of glycosylation type Ig. 61
31743061 2019
154
A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy. 61
31741824 2019
155
Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies. 61
31271700 2019
156
Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? 61
31783696 2019
157
Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center. 61
31677975 2019
158
Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation. 61
30945312 2019
159
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation. 61
31445883 2019
160
Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. 61
30931530 2019
161
Hyperkinetic movement disorders in congenital disorders of glycosylation. 61
31132195 2019
162
Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation. 61
31206957 2019
163
Maintaining order: COG complex controls Golgi trafficking, processing, and sorting. 61
31381138 2019
164
Congenital disorders of glycosylation and the challenge of rare diseases. 61
31374155 2019
165
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination. 61
31231989 2019
166
N-Glycosylation influences human corticosteroid-binding globulin measurements. 61
31307013 2019
167
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 61
30817854 2019
168
Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene. 61
31266720 2019
169
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression. 61
31117816 2019
170
Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing. 61
31101650 2019
171
O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery. 61
30708323 2019
172
Unusual Presentation of PMM2-Congenital Disorder of Glycosylation With Isolated Strokelike Episodes in a Young Girl. 61
30857461 2019
173
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry. 61
30776362 2019
174
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain. 61
30653653 2019
175
Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. 61
30770376 2019
176
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. 61
31021452 2019
177
Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. 61
30770273 2019
178
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype. 61
31036665 2019
179
A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation. 61
30071302 2019
180
Metabolic liver diseases presenting with neonatal cholestasis: at the crossroad between old and new paradigms. 61
30693370 2019
181
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review. 61
30737079 2019
182
[Analysis of PMM2 gene variant in an infant with congenital disorders of glycosylation type 1a]. 61
30950015 2019
183
Developmental regulation of Wnt signaling by Nagk and the UDP-GlcNAc salvage pathway. 61
30904594 2019
184
Glycomics in rare diseases: from diagnosis tomechanism. 61
30423312 2019
185
Congenital myasthenia and congenital disorders of glycosylation caused by mutations in the DPAGT1 gene. 61
28712839 2019
186
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb. 61
30587846 2019
187
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype. 61
30690882 2019
188
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. 61
30335141 2019
189
The distribution of the proteoglycan FORSE-1 in the developing mouse central nervous system. 61
30474148 2019
190
Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples. 61
30641270 2019
191
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient. 61
30420707 2019
192
MAN1B-CDG: Novel variants with a distinct phenotype and review of literature. 61
29908352 2019
193
UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase is indispensable for oogenesis, oocyte-to-embryo transition, and larval development of the nematode Caenorhabditis elegans. 61
30445613 2019
194
Involvement of thapsigargin- and cyclopiazonic acid-sensitive pumps in the rescue of TMEM165-associated glycosylation defects by Mn2. 61
30307768 2019
195
The challenge of CDG diagnosis. 61
30454869 2019
196
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE). 61
30247636 2019
197
Golgi pH, Ion and Redox Homeostasis: How Much Do They Really Matter? 61
31263697 2019
198
An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study. 61
30008170 2019
199
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. 61
30740725 2019
200
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review. 61
30740740 2019
201
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). 61
29709711 2019
202
The clinical and mechanistic intersection of primary atopic disorders and inborn errors of growth and metabolism. 61
30565252 2019
203
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. 61
30397276 2018
204
Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. 61
29947113 2018
205
Congenital disorders of glycosylation. 61
30740408 2018
206
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation. 61
29869806 2018
207
Abrogation of glucosidase I-mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder. 61
30389790 2018
208
Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis. 61
29792046 2018
209
Severe ichthyosis in MPDU1-CDG. 61
29721919 2018
210
Congenital disorders of glycosylation (CDG): Quo vadis? 61
29079546 2018
211
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. 61
30269814 2018
212
High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. 61
30311906 2018
213
Development of a Broadly Applicable Assay for Measurement of Glycan-Directed Enzymatic Activity. 61
29932789 2018
214
TMEM165, a Golgi transmembrane protein, is a novel marker for hepatocellular carcinoma and its depletion impairs invasion activity. 61
30015898 2018
215
Genetic characteristics of patients with congenital hyperinsulinism. 61
29750770 2018
216
Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation. 61
29983310 2018
217
Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene. 61
29858906 2018
218
High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation. 61
29701302 2018
219
CCDC115-CDG: A new rare and misleading inherited cause of liver disease. 61
29759592 2018
220
Detailed Analysis of the Interaction of Yeast COG Complex. 61
29899178 2018
221
Perspectives on Glycosylation and Its Congenital Disorders. 61
29606283 2018
222
More than just sugars: Conserved oligomeric Golgi complex deficiency causes glycosylation-independent cellular defects. 61
29573151 2018
223
Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular processes relevant to congenital disorders of glycosylation, cancer, neurodegeneration and a variety of further pathologies. 61
29547901 2018
224
Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report. 61
29907092 2018
225
Clinical glycomics for the diagnosis of congenital disorders of glycosylation. 61
29497882 2018
226
Recognizable phenotypes in CDG. 61
29654385 2018
227
Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases. 61
29579191 2018
228
The yeast protein Gdt1p transports Mn2+ ions and thereby regulates manganese homeostasis in the Golgi. 61
29632074 2018
229
Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. 61
29502919 2018
230
CDG Therapies: From Bench to Bedside. 61
29702557 2018
231
Deep venous thrombosis treated by rivaroxaban in a young patient with type Ia carbohydrate-deficient glycoprotein (CDG) syndrome. 61
29623892 2018
232
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 61
29396028 2018
233
Renal involvement in PMM2-CDG, a mini-review. 61
29229467 2018
234
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb. 61
29235540 2018
235
A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant. 61
29531722 2018
236
Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish. 61
29472449 2018
237
In-Silico Modeling of the Functional Role of Reduced Sialylation in Sodium and Potassium Channel Gating of Mouse Ventricular Myocytes. 61
28182562 2018
238
Myasthenic syndromes due to defects in COL13A1 and in the N-linked glycosylation pathway. 61
29363764 2018
239
Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. 61
28848061 2018
240
NGLY1-Related Congenital Disorder of Deglycosylation 61
29419975 2018
241
Mitochondrial function requires NGLY1. 61
28750948 2018
242
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. 61
30166758 2018
243
EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. 61
29159459 2018
244
Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? 61
29473937 2018
245
ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation. 61
28887793 2018
246
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation. 61
28820871 2018
247
Atrial septal defect in a patient with congenital disorder of glycosylation type 1a: a case report. 61
29361989 2018
248
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. 61
28940310 2018
249
Conserved Oligomeric Golgi and Neuronal Vesicular Trafficking. 61
29063274 2018
250
Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation. 61
28236367 2018
251
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. 61
28685491 2018
252
Modeling Congenital Disorders of N-Linked Glycoprotein Glycosylation in Drosophila melanogaster. 61
30333856 2018
253
A capillary zone electrophoresis method for detection of Apolipoprotein C-III glycoforms and other related artifactually modified species. 61
29221866 2018
254
Monitoring of transferrin isoforms in biological samples by capillary electrophoresis. 61
28885776 2018
255
Dynamic Function of DPMS Is Essential for Angiogenesis and Cancer Progression. 61
30637701 2018
256
ALG9-CDG: New clinical case and review of the literature. 61
28932688 2017
257
Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. 61
28856833 2017
258
Oral D-galactose supplementation in PGM1-CDG. 61
28617415 2017
259
Production and biophysical characterization of a mini-membrane protein, Ost4V23D: A functionally important mutant of yeast oligosaccharyltransferase subunit Ost4p. 61
28728943 2017
260
Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). 61
29112118 2017
261
COG7 deficiency in Drosophila generates multifaceted developmental, behavioral and protein glycosylation phenotypes. 61
28883096 2017
262
Functional control of polypeptide GalNAc-transferase 3 through an acetylation site in the C-terminal lectin domain. 61
28672761 2017
263
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 61
28581210 2017
264
Congenital disorders of glycosylation: The Saudi experience. 61
28742265 2017
265
Exome sequence identified a c.320A > G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature. 61
28778787 2017
266
A human case of SLC35A3-related skeletal dysplasia. 61
28777481 2017
267
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. 61
28409271 2017
268
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. 61
28816422 2017
269
Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature. 61
28726068 2017
270
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations. 61
28543917 2017
271
Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation. 61
28950866 2017
272
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing. 61
28619360 2017
273
Cardiac Manifestations in Children with Inborn Errors of Metabolism. 61
28891481 2017
274
Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. 61
28733338 2017
275
Dolichol phosphate mannose synthase: a Glycosyltransferase with Unity in molecular diversities. 61
28616799 2017
276
Structural basis for dolichylphosphate mannose biosynthesis. 61
28743912 2017
277
What is new in CDG? 61
28484880 2017
278
Two-dimensional electrophoresis highlights haptoglobin beta chain as an additional biomarker of congenital disorders of glycosylation. 61
28457853 2017
279
Acidic and uncharged polar residues in the consensus motifs of the yeast Ca2+ transporter Gdt1p are required for calcium transport. 61
28114750 2017
280
Three families with mild PMM2-CDG and normal cognitive development. 61
28425223 2017
281
MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG. 61
28444691 2017
282
PIGO deficiency: palmoplantar keratoderma and novel mutations. 61
28545593 2017
283
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. 61
28334793 2017
284
Manganese-induced turnover of TMEM165. 61
28270545 2017
285
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects. 61
28323990 2017
286
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis. 61
27401145 2017
287
Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG). 61
27923528 2017
288
A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis. 61
28139241 2017
289
Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. 61
28122681 2017
290
Epileptic spasms in congenital disorders of glycosylation. 61
28300031 2017
291
Receptor-mediated selective impairment of insulin-like growth factor-1 activity in congenital disorders of glycosylation patients. 61
27089502 2017
292
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature. 61
28108845 2017
293
A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy. 61
27743886 2017
294
Dissecting the molecular organization of the translocon-associated protein complex. 61
28218252 2017
295
Congenital Disorders of Glycosylation: A Pipeline to Treatment? 61
28073185 2017
296
Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation. 61
27862579 2017
297
Data on the phosphorylation state of the catalytic serine of enzymes in the α-D-phosphohexomutase superfamily. 61
28050582 2017
298
N-Glycoprofiling Analysis for Carbohydrate Composition and Site-Occupancy Determination in a Poly-Glycosylated Protein: Human Thyrotropin of Different Origins. 61
28165356 2017
299
Quantitative study of yeast Alg1 beta-1, 4 mannosyltransferase activity, a key enzyme involved in protein N-glycosylation. 61
27670784 2017
300
Neurometabolic and neurodegenerative diseases in children. 61
28987164 2017
301
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG). 61
29492447 2017
302
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. 61
28078493 2017
303
SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. 61
27480077 2016
304
Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls. 61
27095603 2016
305
Glycosylation and stem cells: Regulatory roles and application of iPSCs in the study of glycosylation-related disorders. 61
27667795 2016
306
Immunological aspects of congenital disorders of glycosylation (CDG): a review. 61
27393411 2016
307
Classification of congenital disorders of glycosylation based on analysis of transferrin glycopeptides by capillary liquid chromatography-mass spectrometry. 61
27591658 2016
308
Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease. 61
27725718 2016
309
Glycan susceptibility factors in autism spectrum disorders. 61
27418189 2016
310
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy. 61
27172925 2016
311
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder. 61
27106218 2016
312
Antenatal manifestations of inborn errors of metabolism: biological diagnosis. 61
27393412 2016
313
Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect. 61
27214821 2016
314
Genetic defects in the hexosamine and sialic acid biosynthesis pathway. 61
26721333 2016
315
What Have We Learned from Glycosyltransferase Knockouts in Mice? 61
27040397 2016
316
SWATH-MS Glycoproteomics Reveals Consequences of Defects in the Glycosylation Machinery. 61
27094473 2016
317
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation. 61
27134828 2016
318
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation. 61
26739145 2016
319
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A. 61
27148587 2016
320
Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model. 61
26940433 2016
321
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes. 61
26879448 2016
322
Yeast Gdt1 is a Golgi-localized calcium transporter required for stress-induced calcium signaling and protein glycosylation. 61
27075443 2016
323
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis. 61
27008884 2016
324
Improved tryptic digestion assisted with an acid-labile anionic surfactant for the separation and characterization of glycopeptide glycoforms of a proteolytic-resistant glycoprotein by capillary electrophoresis time-of-flight mass spectrometry. 61
26331950 2016
325
Review of Commercially Available Epilepsy Genetic Panels. 61
26536886 2016
326
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. 61
26805780 2016
327
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. 61
26833330 2016
328
[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?]. 61
26951030 2016
329
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain. 61
26599961 2016
330
COG Complex Complexities: Detailed Characterization of a Complete Set of HEK293T Cells Lacking Individual COG Subunits. 61
27066481 2016
331
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG. 61
26335155 2016
332
News on Clinical Details and Treatment in PGM1-CDG. 61
26303607 2016
333
TMEM165 Deficiency: Postnatal Changes in Glycosylation. 61
26238249 2016
334
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs). 61
26453362 2016
335
A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. 61
26430078 2016
336
Bridging the Gap between Glycosylation and Vesicle Traffic. 61
27014691 2016
337
High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. 61
26307094 2015
338
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. 61
25804403 2015
339
Key features and clinical variability of COG6-CDG. 61
26260076 2015
340
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. 61
26293662 2015
341
Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling. 61
26141167 2015
342
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. 61
26033833 2015
343
A new case of UDP-galactose transporter deficiency (SLC35A2-CDG): molecular basis, clinical phenotype, and therapeutic approach. 61
25778940 2015
344
MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis. 61
25641685 2015
345
Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction. 61
25840516 2015
346
Glycosylation Analysis for Congenital Disorders of Glycosylation. 61
26132001 2015
347
Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor. 61
25792706 2015
348
Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG. 61
25609749 2015
349
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. 61
25943031 2015
350
[Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses]. 61
25727835 2015
351
A glycogene mutation map for discovery of diseases of glycosylation. 61
25267602 2015
352
Reduced sialylation impacts ventricular repolarization by modulating specific K+ channel isoforms distinctly. 61
25525262 2015
353
Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes. 61
25488666 2015
354
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG. 61
24720419 2015
355
Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function. 61
26578865 2015
356
Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation. 61
25305627 2015
357
An overview of inborn errors of complex lipid biosynthesis and remodelling. 61
25238787 2015
358
Genetic defects in dolichol metabolism. 61
25270028 2015
359
Glycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology. 61
26125015 2015
360
Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage. 61
25192236 2014
361
Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease. 61
25031264 2014
362
Infant with cardiomyopathy: When to suspect inborn errors of metabolism? 61
25429327 2014
363
Cog5-Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex. 61
25331899 2014
364
Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function. 61
24971539 2014
365
The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation. 61
24875750 2014
366
Congenital disorders of glycosylation: new defects and still counting. 61
24831587 2014
367
Congenital disorders of glycosylation with emphasis on cerebellar involvement. 61
25192513 2014
368
Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome. 61
24461433 2014
369
Congenital disorders of glycosylation with neonatal presentation. 61
24739649 2014
370
Congenital disorders of glycosylation: other causes of ichthyosis. 61
23900269 2014
371
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. 61
24566669 2014
372
N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. 61
24474243 2014
373
Ethanol-induced impairment in the biosynthesis of N-linked glycosylation. 61
24243557 2014
374
Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption. 61
24508628 2014
375
Identification of salivary N-glycoproteins and measurement of glycosylation site occupancy by boronate glycoprotein enrichment and liquid chromatography/electrospray ionization tandem mass spectrometry. 61
24497285 2014
376
N-Glycosylation site analysis of proteins from Saccharomyces cerevisiae by using hydrophilic interaction liquid chromatography-based enrichment, parallel deglycosylation, and mass spectrometry. 61
24527708 2014
377
Congenital disorders of glycosylation: first deaf patient treated with a cochlear implant. 61
23122365 2014
378
A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. 61
24218363 2014
379
Multiple phenotypes in phosphoglucomutase 1 deficiency. 61
24499211 2014
380
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. 61
24417746 2014
381
X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. 61
24501762 2014
382
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. 61
24555185 2014
383
N-Linked glycan site occupancy impacts the distribution of a potassium channel in the cell body and outgrowths of neuronal-derived cells. 61
24161696 2014
384
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities. 61
24259184 2014
385
Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient. 61
24878975 2014
386
ALG1-CDG: a new case with early fatal outcome. 61
24157261 2014
387
PMM2-CDG: phenotype and genotype in four affected family members. 61
23988505 2013
388
Alkynyl monosaccharide analogues as a tool for evaluating Golgi glycosylation efficiency: application to Congenital Disorders of Glycosylation (CDG). 61
24153356 2013
389
Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation. 61
24305089 2013
390
Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation. 61
23928051 2013
391
Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes. 61
23865579 2013
392
ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings. 61
23791010 2013
393
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. 61
23806237 2013
394
Screening for congenital disorders of glycosylation in the first weeks of life. 61
22991164 2013
395
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype. 61
23249953 2013
396
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. 61
23606727 2013
397
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation. 61
23742123 2013
398
rhIGF-1 Therapy for Growth Failure and IGF-1 Deficiency in Congenital Disorder of Glycosylation Ia (PMM2 Deficiency). 61
26425584 2013
399
Congenital disorder of glycosylation type Ic: report of a Japanese case. 61
23044053 2013
400
Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction. 61
23471032 2013
401
Thrombotic complications in patients with PMM2-CDG. 61
23499581 2013
402
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. 61
24498599 2013
403
A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. 61
22976764 2013
404
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. 61
23561847 2013
405
Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. 61
23569283 2013
406
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. 61
23404334 2013
407
From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). 61
22327749 2013
408
Perinatal and early infantile symptoms in congenital disorders of glycosylation. 61
23401092 2013
409
Congenital disorders of glycosylation and intellectual disability. 61
23798010 2013
410
Therapies and therapeutic approaches in Congenital Disorders of Glycosylation. 61
22983739 2013
411
Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation. 61
23730680 2013
412
Regulation of dolichol-linked glycosylation. 61
22717794 2013
413
A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation. 61
22899857 2013
414
Glycomics using mass spectrometry. 61
22532006 2013
415
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation. 61
24051442 2013
416
Congenital disorders of glycosylation. 61
23622397 2013
417
Glycoproteomics on the rise: established methods, advanced techniques, sophisticated biological applications. 61
23161435 2013
418
Socio-emotional Problems in Children with CDG. 61
23733602 2013
419
MAN1B1 deficiency: an unexpected CDG-II. 61
24348268 2013
420
Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. 61
22983704 2013
421
Glycosylation disorders of membrane trafficking. 61
22584409 2013
422
The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. 61
22723063 2012
423
A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. 61
22691915 2012
424
Genetics and metabolic cardiomyopathies. 61
22936369 2012
425
Glycomics of pediatric and adulthood diseases of the central nervous system. 61
22813883 2012
426
[Prenatal symptoms and diagnosis of inherited metabolic diseases]. 61
22884749 2012
427
Diseases of glycosylation beyond classical congenital disorders of glycosylation. 61
22343051 2012
428
SRD5A3-CDG: a patient with a novel mutation. 61
22240719 2012
429
Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. 61
22611120 2012
430
The conserved oligomeric Golgi complex is required for fucosylation of N-glycans in Caenorhabditis elegans. 61
22377913 2012
431
Neurology of inherited glycosylation disorders. 61
22516080 2012
432
Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. 61
22496445 2012
433
Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini. 61
22134542 2012
434
Congenital disorder of glycosylation: a case presentation. 61
22469962 2012
435
Life with too much polyprenol: polyprenol reductase deficiency. 61
22304929 2012
436
Congenital disorders of glycosylation. 61
22469961 2012
437
Thyroid function in PMM2-CDG: diagnostic approach and proposed management. 61
22386715 2012
438
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. 61
22306853 2012
439
Role of N-glycosylation in cell surface expression and protection against proteolysis of the intestinal anion exchanger SLC26A3. 61
22159084 2012
440
5-thiomannosides block the biosynthesis of dolichol-linked oligosaccharides and mimic class I congenital disorders of glycosylation. 61
22262650 2012
441
[Diagnostic investigations for an unexplained developmental disability]. 61
22245660 2012
442
Distinct features of congenital disorder of glycosylation type IIx in Kuwait: a case report. 61
21960674 2012
443
Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping. 61
23430862 2012
444
Lymphatic edema in congenital disorders of glycosylation. 61
23430905 2012
445
Exome sequencing: dual role as a discovery and diagnostic tool. 61
22275248 2012
446
Insights into complexity of congenital disorders of glycosylation. 61
22838182 2012
447
Macular hypoplasia in congenital disorder of glycosylation type ia. 61
22649348 2012
448
COG5-CDG with a Mild Neurohepatic Presentation. 61
23430875 2012
449
Expanding the Spectrum of PMM2-CDG Phenotype. 61
23430927 2012
450
Endocrine manifestations related to inherited metabolic diseases in adults. 61
22284844 2012
451
Congenital disorders of glycosylation: sweet news. 61
21970833 2011
452
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. 61
21920538 2011
453
Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. 61
21811164 2011
454
Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. 61
21949237 2011
455
Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells. 61
21722633 2011
456
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. 61
21956720 2011
457
Metabolic cutis laxa syndromes. 61
21431621 2011
458
Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I. 61
21431619 2011
459
The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation. 61
21384227 2011
460
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. 61
21541726 2011
461
Mouse models for congenital disorders of glycosylation. 61
21347588 2011
462
Congenital disorders of glycosylation (CDG): it's (nearly) all in it! 61
21384229 2011
463
Fibrotic response in fibroblasts from congenital disorders of glycosylation. 61
21029365 2011
464
Oligosaccharyltransferase: the central enzyme of N-linked protein glycosylation. 61
21614585 2011
465
How Golgi glycosylation meets and needs trafficking: the case of the COG complex. 61
21112967 2011
466
Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1. 61
21062782 2011
467
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. 61
21385794 2011
468
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. 61
21362473 2011
469
Identification of phosphorylated oligosaccharides in cells of patients with a congenital disorders of glycosylation (CDG-I). 61
21315133 2011
470
FSH isoform pattern in classic galactosemia. 61
20814826 2011
471
Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. 61
21273509 2011
472
Polyisoprenoids - Secondary metabolites or physiologically important superlipids? 61
21419101 2011
473
Improvement of dolichol-linked oligosaccharide biosynthesis by the squalene synthase inhibitor zaragozic acid. 61
21183681 2011
474
Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation? 61
23430830 2011
475
Cog2 null mutant CHO cells show defective sphingomyelin synthesis. 61
21047787 2010
476
A fascination with sugars. 61
21079006 2010
477
Posterior fossa imaging in 158 children with ataxia. 61
20378176 2010
478
Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation. 61
21060795 2010
479
Amniotic fluid α-fetoprotein microheterogeneity in the prenatal diagnosis of congenital disorders of glycosylation type Ia. 61
20528096 2010
480
Discovery and design of carbohydrate-based therapeutics. 61
22827796 2010
481
The compartmentalisation of phosphorylated free oligosaccharides in cells from a CDG Ig patient reveals a novel ER-to-cytosol translocation process. 61
20652024 2010
482
Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates. 61
20633274 2010
483
Ontogeny of D-mannose transport and metabolism in rat small intestine. 61
20523973 2010
484
Ultrastructural aspects of enterocyte defects in infancy and childhood. 61
20455660 2010
485
A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. 61
20398363 2010
486
Analysis and metabolic engineering of lipid-linked oligosaccharides in glycosylation-deficient CHO cells. 61
20331963 2010
487
Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. 61
20138683 2010
488
Presentation of congenital disorders of glycosylation type 1a. 61
20216285 2010
489
A novel method of production and biophysical characterization of the catalytic domain of yeast oligosaccharyl transferase. 61
20047336 2010
490
High-throughput RNAi screening for N-glycosylation dependent loci in Caenorhabditis elegans. 61
20816223 2010
491
Genetic defects in muscular dystrophy. 61
20816173 2010
492
A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG). 61
19840782 2010
493
Congenital disorders of glycosylation with emphasis on loss of dermatan-4-sulfotransferase. 61
20807649 2010
494
A new case of ALG8 deficiency (CDG Ih). 61
19688606 2009
495
Modeling a congenital disorder of glycosylation type I in C. elegans: a genome-wide RNAi screen for N-glycosylation-dependent loci. 61
19729382 2009
496
Metabolism, cell surface organization, and disease. 61
20064370 2009
497
Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. 61
19862844 2009
498
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. 61
19757145 2009
499
Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation. 61
19165618 2009
500
Screening for OST deficiencies in unsolved CDG-I patients. 61
19835842 2009
501
Hypoglycosylation due to dolichol metabolism defects. 61
19419701 2009
502
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. 61
19171192 2009
503
COG defects, birth and rise! 61
19028570 2009
504
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation. 61
19608465 2009
505
Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient. 61
19451548 2009
506
Structural basis for a human glycosylation disorder caused by mutation of the COG4 gene. 61
19651599 2009
507
Biomarkers and diagnosis of congenital disorders of glycosylation. 61
23485208 2009
508
IGF system in children with congenital disorders of glycosylation. 61
19207313 2009
509
[Hyperinsulinism in infancy and childhood: when an insulin level is not always enough]. 61
19411227 2009
510
Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. 61
19235233 2009
511
Mass spectrometry in the characterization of human genetic N-glycosylation defects. 61
18844296 2009
512
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts. 61
19157945 2009
513
Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. 61
19019927 2009
514
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia. 61
19100247 2009
515
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF). 61
19146845 2009
516
Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE. 61
19101518 2009
517
Dissociation profile of protonated fucosyl glycopeptides and quantitation of fucosylation levels of glycoproteins by mass spectrometry. 61
19099505 2009
518
Mass spectrometry of N-linked glycans. 61
19277537 2009
519
CDG type Ia and congenital cytomegalovirus infection: two coexisting conditions. 61
19168813 2009
520
Transferrin D protein variants in the diagnosis of congenital disorders of glycosylation (CDG). 61
19288450 2009
521
Hyperinsulinism in developmental syndromes. 61
19293578 2009
522
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. 61
18720094 2009
523
On the nomenclature of congenital disorders of glycosylation (CDG). 61
18949576 2008
524
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. 61
18679822 2008
525
[Congenital disorder of glycosylation type 1b. Experience with mannose treatment]. 61
18928705 2008
526
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS. 61
18712764 2008
527
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. 61
18571450 2008
528
Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation. 61
18353293 2008
529
Genetic variants of transferrin in cystic fibrosis. 61
18344013 2008
530
The skeletal manifestations of the congenital disorders of glycosylation. 61
18462449 2008
531
Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. 61
18500572 2008
532
[Congenital Disorders of Glycosylation (CDG)]. 61
18582686 2008
533
Congenital disorders of glycosylation--a challenging group of IEMs. 61
18392739 2008
534
Ion mobility mass spectrometry analysis of human glycourinome. 61
18269265 2008
535
Beta N-acetylglucosaminyltransferase V (Mgat5) deficiency reduces the depression-like phenotype in mice. 61
17883406 2008
536
BlotGlycoABCTM, an integrated glycoblotting technique for rapid and large scale clinical glycomics. 61
17986439 2008
537
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough. 61
18156285 2008
538
Human total serum N-glycome. 61
19004187 2008
539
Diagnostic dilemma's: the congenital disorders of glycosylation are clinical chameleons. 61
18075505 2008
540
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. 61
17904886 2008
541
Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. 61
18024528 2008
542
Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). 61
17920054 2007
543
Congenital disorders of glycosylation type Ia as a cause of mirror syndrome. 61
18034167 2007
544
N-glycosylation site occupancy in serum glycoproteins using multiple reaction monitoring liquid chromatography-mass spectrometry. 61
17823199 2007
545
Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features. 61
17954208 2007
546
Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. 61
17694350 2007
547
[Congenital disorders of glycosylation and project "Euroglycanet"]. 61
18198629 2007
548
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). 61
17639595 2007
549
Detection of hypo-N-glycosylation using mass spectrometry of transferrin. 61
18428410 2007
550
A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis. 61
17520685 2007
551
Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond. 61
17584079 2007
552
The liver in congenital disorders of glycosylation: ultrastructural features. 61
17613998 2007
553
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. 61
17166182 2007
554
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. 61
17307006 2007
555
Complex oligosaccharides are N-linked to Kv3 voltage-gated K+ channels in rat brain. 61
17197096 2007
556
Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis. 61
17372855 2007
557
[Pontocerebellar hypoplasia type 1: a case report]. 61
17342678 2007
558
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. 61
17170056 2007
559
Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy. 61
17049852 2007
560
Mass spectrometry in the detection and diagnosis of congenital disorders of glycosylation. 61
17878547 2007
561
Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. 61
17963418 2007
562
Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. 61
19030119 2007
563
Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates. 61
17179930 2007
564
Congenital disorders of glycosylation: a rapidly expanding disease family. 61
17506657 2007
565
Effect of glycosylation on the protein pattern in 2-D-gel electrophoresis. 61
17152094 2007
566
IntraGolgi distribution of the Conserved Oligomeric Golgi (COG) complex. 61
16857184 2006
567
Protein glycosylation, conserved from yeast to man: a model organism helps elucidate congenital human diseases. 61
17024709 2006
568
[Congenital disorders of glycosylation. Their diagnosis and treatment]. 61
17061182 2006
569
Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. 61
16816004 2006
570
The normal phenotype of Pmm1-deficient mice suggests that Pmm1 is not essential for normal mouse development. 61
16847318 2006
571
Targeted disruption of the mouse phosphomannomutase 2 gene causes early embryonic lethality. 61
16847317 2006
572
Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. 61
16859551 2006
573
Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. 61
16482534 2006
574
Mass spectrometry for congenital disorders of glycosylation, CDG. 61
16517226 2006
575
COG-7-deficient Human Fibroblasts Exhibit Altered Recycling of Golgi Proteins. 61
16510524 2006
576
An evolving view of the eukaryotic oligosaccharyltransferase. 61
16317064 2006
577
Diagnosis of congenital disorders of glycosylation type-I using protein chip technology. 61
16552784 2006
578
PMM2 intronic branch-site mutations in CDG-Ia. 61
16376131 2006
579
The congenital disorders of glycosylation: a multifaceted group of syndromes. 61
16554263 2006
580
Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. 61
16497938 2006
581
Identification of glycoconjugates in the urine of a patient with congenital disorder of glycosylation by high-resolution mass spectrometry. 61
16372276 2006
582
Congenital disorders of glycosylation type I: a rare but new cause of hyperechoic kidneys in infants and children due to early microcystic changes. 61
16328327 2006
583
Retrograde transport on the COG railway. 61
16406524 2006
584
Human Disease Glycomics/Proteome Initiative Workshop and the 4th HUPO Annual Congress. 61
16400694 2006
585
Application of fluorophore-assisted carbohydrate electrophoresis for the study of the dolichol pyrophosphate-linked oligosaccharides pathway in cell cultures and animal tissues. 61
17072000 2006
586
Molecular mechanisms of neonatal hyperinsulinism. 61
17003566 2006
587
Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. 61
16317304 2006
588
High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. 61
16496270 2006
589
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. 61
16037488 2005
590
Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. 61
16037491 2005
591
The expanding spectrum of congenital disorders of glycosylation. 61
16356420 2005
592
Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. 61
16079417 2005
593
Altered glycan structures: the molecular basis of congenital disorders of glycosylation. 61
16154350 2005
594
The dystroglycanopathies: the new disorders of O-linked glycosylation. 61
16584074 2005
595
Cutaneous findings in congenital disorders of glycosylation: the hanging fat sign. 61
16191002 2005
596
Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex: studies of COG5- and COG7-deficient mammalian cells. 61
16051600 2005
597
Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development. 61
16115222 2005
598
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 61
20301507 2005
599
Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. 61
15840742 2005
600
Glycoproteomics of N-glycosylation by in-gel deglycosylation and matrix-assisted laser desorption/ionisation-time of flight mass spectrometry mapping: application to congenital disorders of glycosylation. 61
15912511 2005
601
Research network: EUROGLYCANET: a European network focused on congenital disorders of glycosylation. 61
15657601 2005
602
Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. 61
15714316 2005
603
Fluorophore-assisted carbohydrate electrophoresis: a sensitive and accurate method for the direct analysis of dolichol pyrophosphate-linked oligosaccharides in cell cultures and tissues. 61
15804603 2005
604
[Molecular diagnosis of congenital disorders of glycosylation]. 61
15771971 2005
605
Underdiagnosis of mild congenital disorders of glycosylation type Ia. 61
15664773 2005
606
Genome-wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type-I patients. 61
15545299 2005
607
The diversity of dolichol-linked precursors to Asn-linked glycans likely results from secondary loss of sets of glycosyltransferases. 61
15665075 2005
608
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I). 61
16435229 2005
609
Genetic variants of transferrin in the diagnosis of protein hypoglycosylation. 61
16435226 2005
610
0,2An cross-ring cleavage as a general diagnostic tool for glycan assignment in glycoconjugate mixtures. 61
15589762 2004
611
Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies. 61
16009061 2004
612
Glycosylation defects in muscular dystrophies. 61
15367856 2004
613
Congenital disorders of glycosylation: a booming chapter of pediatrics. 61
15273506 2004
614
Screening for CDG type Ia in Joubert syndrome. 61
15277997 2004
615
Carbohydrate-deficient transferrin (CDT)--a biomarker for long-term alcohol consumption. 61
15205047 2004
616
Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms. 61
15105360 2004
617
[Congenital disorders of glycosylation: state of the art and Spanish experience]. 61
15171833 2004
618
Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib, and Ic. 61
15076627 2004
619
Metformin-stimulated mannose transport in dermal fibroblasts. 61
14681228 2004
620
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. 61
14709599 2004
621
[Inherited disorders of protein glycosylation]. 61
15067579 2004
622
Neonatal hypoglycaemia: aetiologies. 61
15013475 2004
623
The prenatal diagnosis of congenital disorders of glycosylation (CDG). 61
14974118 2004
624
Pitfalls and drawbacks in screening of congenital disorders of glycosylation. 61
15259372 2004
625
Our experience with diagnostics of congenital disorders of glycosylation. 61
15841907 2004
626
Congenital disorders of glycosylation (CDG): update and new developments. 61
15272470 2004
627
Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. 61
14633925 2004
628
CDG IIx with unusual phenotype. 61
15065572 2004
629
Improvement of CDG diagnosis by combined examination of several glycoproteins. 61
15669673 2004
630
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. 61
14578315 2003
631
Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. 61
12773475 2003
632
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. 61
12872255 2003
633
Cardiomyopathy in congenital disorders of glycosylation. 61
14694955 2003
634
[Failure to thrive and intestinal diseases in congenital disorders of glycosylation]. 61
12907065 2003
635
Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection. 61
12729595 2003
636
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation. 61
12763243 2003
637
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis. 61
12731647 2003
638
New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system. 61
12618564 2003
639
The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random. 61
12626422 2003
640
Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. 61
12690561 2003
641
Hair changes in congenital disorders of glycosylation (CDG type 1). 61
12607543 2003
642
Metabolic disorders and mental retardation. 61
12561056 2003
643
Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it! 61
12889654 2003
644
[Congenital disorder of type Ia protein glycosylation: clinical, biochemical and molecular characteristics in 2 siblings with cerebellar hypoplasia]. 61
12920791 2003
645
Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. 61
12530817 2003
646
Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG). 61
12872840 2003
647
[Congenital disorders of glycosylation]. 61
13130291 2003
648
[Congenital disorders of glycosylation]. 61
14601252 2003
649
Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx . 61
12889655 2003
650
Human disorders in N-glycosylation and animal models. 61
12417423 2002
651
The fine structure of Caenorhabditis elegans N-glycans. 61
12361949 2002
652
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. 61
12705494 2002
653
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. 61
12410200 2002
654
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 61
12357336 2002
655
[CDG (congenital disorders of glycosylation). Differential hereditary ataxia in adulthood diagnosis]. 61
12242963 2002
656
Perturbation of free oligosaccharide trafficking in endoplasmic reticulum glucosidase I-deficient and castanospermine-treated cells. 61
11942856 2002
657
Analyses of dolichol pyrophosphate-linked oligosaccharides in cell cultures and tissues by fluorophore-assisted carbohydrate electrophoresis. 61
12070078 2002
658
Extension of lipid-linked oligosaccharides is a high-priority aspect of the unfolded protein response: endoplasmic reticulum stress in Type I congenital disorder of glycosylation fibroblasts. 61
12070073 2002
659
Congenital disorders of glycosylation syndromes. 61
12033725 2002
660
A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. 61
11875054 2002
661
A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia. 61
11891694 2002
662
A mannosyltransferase gene at 11q23 is disrupted by a translocation breakpoint that co-segregates with bipolar affective disorder in a small family. 61
12030331 2002
663
Autosomal recessive cerebellar ataxia with bull's-eye macular dystrophy. 61
11860984 2002
664
Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant. 61
11935250 2002
665
Glycoforms of six serum glycoproteins in a patient with congenital disorder of glycosylation type I. 61
11916311 2002
666
Update and perspectives on congenital disorders of glycosylation. 61
11805072 2001
667
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis. 61
11805078 2001
668
Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. 61
11715002 2001
669
Congenital disorders of glycosylation and the pediatric liver. 61
11745038 2001
670
Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation. 61
11583570 2001
671
Balancing N-linked glycosylation to avoid disease. 61
11530212 2001
672
Congenital disorders involving defective N-glycosylation of proteins. 61
11529501 2001
673
Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. 61
11343337 2001
674
Neurologic course of congenital disorders of glycosylation. 61
11417605 2001
675
Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. 61
11350185 2001
676
Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations. 61
11409861 2001
677
Diversity of congenital disorders of glycosylation. 61
11356431 2001
678
Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. 61
11326280 2001
679
Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2. 61
11404002 2001
680
Lectin analyses of glycoprotein hormones in patients with congenital disorders of glycosylation. 61
11275952 2001
681
Congenital disorders of glycosylation: genetic model systems lead the way. 61
11306275 2001
682
Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. 61
11238305 2001
683
Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study. 61
11308015 2001
684
High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). 61
11156536 2001
685
Metabolic studies in older mentally retarded patients: significance of metabolic testing and correlation with the clinical phenotype. 61
11332972 2001
686
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. 61
11589167 2001
687
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. 61
11134235 2001
688
Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia. 61
11159919 2000
689
Congenital disorders of glycosylation: have you encountered them? 61
11339653 2000
690
Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. 61
11228641 2000
691
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation. 61
11140630 2000
692
Congenital disorders of glycosylation. 61
10973055 2000
693
Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib). 61
10980531 2000
694
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients. 61
10922383 2000
695
Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG). 61
10929009 2000
696
Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring. 61
10839767 2000
697
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). 61
10854097 2000
698
Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. 61
10914684 2000
699
Congenital disorders of glycosylation (CDG): a rapidly expanding group of neurometabolic disorders. 61
10832577 2000
700
Congenital disorder of glycosylation-Ic: case report and genetic defect. 61
10832578 2000
701
What's new in congenital disorders of glycosylation? 61
11008258 2000
702
[CDG syndrome(congenital disorders of glycosylation)]. 61
11032006 2000
703
Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) 61
10642597 2000
704
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. 61
10642602 2000
705
Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. 61
10642590 2000

Variations for Congenital Disorders of N-Linked Glycosylation and Multiple...

Expression for Congenital Disorders of N-Linked Glycosylation and Multiple...

Search GEO for disease gene expression data for Congenital Disorders of N-Linked Glycosylation and Multiple Pathway.

Pathways for Congenital Disorders of N-Linked Glycosylation and Multiple...

Pathways related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

(showing 5, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.52 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
2
Show member pathways
13.23 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
3
Show member pathways
12.59 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
4
Show member pathways
11.79 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
5
Show member pathways
11.17 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11

GO Terms for Congenital Disorders of N-Linked Glycosylation and Multiple...

Cellular components related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 ALG6 ALG3 ALG2 ALG12 ALG11 ALG1
2 endoplasmic reticulum GO:0005783 9.43 ALG6 ALG3 ALG13 ALG12 ALG11 ALG1
3 endoplasmic reticulum membrane GO:0005789 9.17 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11

Biological processes related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.65 ALG6 ALG3 ALG2 ALG12 ALG1
2 protein N-linked glycosylation GO:0006487 9.5 ALG6 ALG12 ALG11
3 mannosylation GO:0097502 9.35 ALG3 ALG2 ALG12 ALG11 ALG1
4 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.33 ALG6 ALG2 ALG11
5 dolichol-linked oligosaccharide biosynthetic process GO:0006488 9.1 ALG6 ALG3 ALG2 ALG13 ALG12 ALG1

Molecular functions related to Congenital Disorders of N-Linked Glycosylation and Multiple Pathway according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.5 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11
2 mannosyltransferase activity GO:0000030 9.33 ALG3 ALG12 ALG1
3 transferase activity, transferring hexosyl groups GO:0016758 9.32 ALG6 ALG13
4 alpha-1,3-mannosyltransferase activity GO:0000033 9.26 ALG3 ALG2
5 transferase activity, transferring glycosyl groups GO:0016757 9.17 ALG6 ALG3 ALG2 ALG13 ALG12 ALG11

Sources for Congenital Disorders of N-Linked Glycosylation and Multiple...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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