MCID: KRB001
MIFTS: 69

Krabbe Disease

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Krabbe Disease

MalaCards integrated aliases for Krabbe Disease:

Name: Krabbe Disease 54 38 12 72 23 50 24 25 51 56 71 13 52 14
Globoid Cell Leukodystrophy 12 23 50 24 51 56 69
Galc Deficiency 23 50 24 25 56 71
Galactosylceramide Beta-Galactosidase Deficiency 12 50 24 71 29
Galactocerebrosidase Deficiency 23 50 24 56
Globoid Cell Leukoencephalopathy 12 50 71
Galactosylceramidase Deficiency 23 24 56
Gcl 50 25 71
Gld 50 25 71
Diffuse Globoid Body Sclerosis 12 25
Leukodystrophy, Globoid Cell 71 42
Galactosylceramidase Deficiency Disease 25
Infantile Globoid Cell Leukodystrophy 69
Beta Galactocerebrosidase Deficiency 12
Galactosylcerebrosidase Deficiency 25
Galactosylsphingosine Lipidosis 25
Galactosylceramide Lipidosis 25
Krabbe's Leukodystrophy 12
Krabbe Leukodystrophy 50
Psychosine Lipidosis 25
Krabbe's Disease 12

Characteristics:

Orphanet epidemiological data:

56
krabbe disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States),1-9/100000 (Europe),1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/100000 (Sweden); Age of onset: Adolescent,Adult,Childhood,Infancy,Neonatal; Age of death: any age;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
episodic fever
four clinical forms of krabbe disease
infantile form has onset within first 6 months of life
infantile form accounts for 90% of cases
infantile form usually leads to death by age 2 years
late infantile form has onset between 19 months and 4 years
juvenile form has onset between 4 and 19 years
adult form onset has after 20 years
incidence of 1 in 100,000


HPO:

32
krabbe disease:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Krabbe Disease

NIH Rare Diseases : 50 krabbe disease is an inherited condition that affects the nervous system. the signs and symptoms of the condition and the disease severity differ by type. babies affected by early-onset (infantile) krabbe disease, the most common and severe form of the condition, typically develop features in the first six months of life. symptoms of infantile krabbe disease may include irritability; failure to thrive; slowed development; unexplained fevers; and progressive muscle weakness, hearing loss and vision loss. people affected by the late-onset forms may not develop symptoms until later in childhood, early adolescence or even into adulthood. signs and symptoms of these forms are extremely variable but may include muscle weakness and rigidity; walking difficulties; vision loss; intellectual regression; and/or seizures. krabbe disease is caused by changes (mutations) in the galc gene and is inherited in an autosomal recessive manner. treatment is generally based on the signs and symptoms present in each person; however, preliminary studies suggest that it may be beneficial to use hematopoietic stem cell transplantation (i.e. umbilical cord blood stem cells) as a treatment for patients in the early stages of infantile krabbe disease and older people with mild symptoms. last updated: 10/9/2015

MalaCards based summary : Krabbe Disease, also known as globoid cell leukodystrophy, is related to krabbe disease, atypical and infantile krabbe disease, and has symptoms including visual impairment, ataxia and recurrent respiratory infections. An important gene associated with Krabbe Disease is GALC (Galactosylceramidase), and among its related pathways/superpathways are PAK Pathway and Sweet Taste Signaling. The drugs Busulfan and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are behavior/neurological and hematopoietic system

Genetics Home Reference : 25 Krabbe disease (also called globoid cell leukodystrophy) is a degenerative disorder that affects the nervous system. It is caused by the shortage (deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus.

OMIM : 54
Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010). (245200)

NINDS : 51 Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroys brain cells.  Krabbe disease, also known as globoid cell leukodystrophy, is characterized by the presence of globoid cells (cells that have more than one nucleus) that break down  the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism.  The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood.  Symptoms include severe deterioration of mental and motor skills, muscle weakness, hypertonia (inability of a muscle to stretch), myoclonic seizures (sudden, shock-like contractions of the limbs), and spasticity (involuntary and awkward movement). Other symptoms may include irritability, unexplained fever, blindness, difficulty with swallowing, and deafness. 

UniProtKB/Swiss-Prot : 71 Leukodystrophy, globoid cell: An autosomal recessive disorder characterized by insufficient catabolism of several galactolipids that are important for normal myelin production. Four clinical forms are recognized. The infantile form accounts for 90% of cases. It manifests before six months of age with irritability, spasticity, arrest of motor and mental development, and bouts of temperature elevation without infection. This is followed by myoclonic jerks of arms and legs, oposthotonus, hypertonic fits, and mental regression, which progresses to a severe decerebrate condition with no voluntary movements and death from respiratory infections or cerebral hyperpyrexia before 2 years of age. Cases with later onset present with unexplained blindness, weakness and sensorimotor peripheral neuropathy, mental deterioration and death.

Wikipedia : 72 Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a... more...

GeneReviews: NBK1238

Related Diseases for Krabbe Disease

Diseases in the Krabbe Disease family:

Infantile Krabbe Disease Late-Infantile/juvenile Krabbe Disease
Adult Krabbe Disease

Diseases related to Krabbe Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 45, show less)
id Related Disease Score Top Affiliating Genes
1 krabbe disease, atypical 12.2
2 infantile krabbe disease 12.1
3 adult krabbe disease 12.0
4 late-infantile/juvenile krabbe disease 11.9
5 lymphedema, hereditary, iii 10.9
6 sphingolipidosis 10.8
7 cerebral atrophy 10.8
8 spasticity 10.8
9 overlap myositis 10.5 GALC PSAP
10 leukodystrophy 10.4
11 gaucher disease, type i 10.3 CHIT1 PSAP
12 niemann-pick disease, type b 10.1 CHIT1 MBP
13 tay-sachs disease, b variant, adult form 10.0 ARSA PSAP
14 tay-sachs disease, b variant, juvenile form 10.0 ARSA PSAP
15 endotheliitis 10.0
16 autosomal recessive infantile hypercalcemia 10.0 ARSA PSAP
17 neuronitis 10.0
18 neuropathy 10.0
19 metachromatic leukodystrophy 10.0
20 spinocerebellar degeneration 9.9
21 internal auditory canal meningioma 9.9 CASP3 MBP
22 osteochondritis dissecans 9.9 CHIT1 MBP PSAP
23 spina bifida occulta 9.9 ARSA PSAP
24 ulcerative colitis 9.8 CASP3 MBP
25 cerebritis 9.8
26 hematopoietic stem cell transplantation 9.8
27 dysostosis 9.7 ARSA GALC PSAP
28 tyrosinemia, type i 9.7 ARSA PSAP
29 mitochondrial dna depletion syndrome 1 9.7 ARSA GALC PSAP
30 conjunctivitis 9.7
31 intussusception 9.7
32 cerebellar ataxia 9.7
33 glioma 9.7
34 ataxia 9.7
35 adrenoleukodystrophy 9.7
36 myoclonus 9.7
37 rett syndrome 9.7
38 lysosomal storage disease 9.7
39 motor neuron disease 9.7
40 neuronal ceroid lipofuscinosis 9.7
41 uterine corpus cancer 9.6 ARSA GALC PSAP
42 brain meningioma 9.6 CASP3 MBP
43 pre-eclampsia 9.6 ARSA GALC PSAP
44 hypothalamic disease 9.6 ARSA CHIT1 PSAP
45 graves disease 1 6.4 ARSA CASP3 CHIT1 GALC JUN MBP

Graphical network of the top 20 diseases related to Krabbe Disease:



Diseases related to Krabbe Disease

Symptoms & Phenotypes for Krabbe Disease

Symptoms via clinical synopsis from OMIM:

54

Growth- Other:
failure to thrive

Neurologic- Central Nervous System:
abnormal eeg
seizures
hydrocephalus
neurodegeneration
developmental regression
more
Head And Neck- Ears:
deafness
abnormal brainstem auditory evoked potentials (baep)

Laboratory- Abnormalities:
elevated cerebrospinal fluid (csf) protein
galactocerebroside beta-galactosidase deficiency in serum, leukocytes, and fibroblasts

Head And Neck- Eyes:
optic atrophy
nystagmus
blindness
abnormal flash visual evoked potentials (vep)

Abdomen- Gastroin testinal:
vomiting

Neurologic- Peripheral Nervous System:
decreased nerve conduction velocities
sensorimotor peripheral neuropathy
diffuse demyelinating neuropathy


Clinical features from OMIM:

245200

Human phenotypes related to Krabbe Disease:

56 32 (showing 46, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
2 ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 recurrent respiratory infections 56 32 frequent (33%) Frequent (79-30%) HP:0002205
4 spasticity 56 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 seizures 56 32 Frequent (79-30%) HP:0001250
6 irritability 56 32 frequent (33%) Frequent (79-30%) HP:0000737
7 global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
9 feeding difficulties 56 32 hallmark (90%) Very frequent (99-80%) HP:0011968
10 sensory neuropathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0000763
11 weight loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0001824
12 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
13 gait disturbance 56 32 frequent (33%) Frequent (79-30%) HP:0001288
14 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
15 cloverleaf skull 56 32 hallmark (90%) Very frequent (99-80%) HP:0002676
16 emg abnormality 56 32 hallmark (90%) Very frequent (99-80%) HP:0003457
17 abnormality of the thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0001172
18 generalized myoclonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002123
19 hemiplegia/hemiparesis 56 32 frequent (33%) Frequent (79-30%) HP:0004374
20 aplasia/hypoplasia of the abdominal wall musculature 56 32 hallmark (90%) Very frequent (99-80%) HP:0010318
21 failure to thrive 32 HP:0001508
22 optic atrophy 32 HP:0000648
23 nystagmus 32 HP:0000639
24 hypertonia 32 HP:0001276
25 hydrocephalus 32 HP:0000238
26 peripheral neuropathy 56 Very frequent (99-80%)
27 vomiting 32 HP:0002013
28 blindness 32 HP:0000618
29 increased csf protein 32 HP:0002922
30 sensorimotor neuropathy 32 HP:0007141
31 diffuse cerebral atrophy 32 HP:0002506
32 neurodegeneration 32 HP:0002180
33 muscular hypotonia 32 HP:0001252
34 developmental regression 32 HP:0002376
35 decreased nerve conduction velocity 32 HP:0000762
36 autoimmune thrombocytopenia 32 HP:0001973
37 hyperactive deep tendon reflexes 32 HP:0006801
38 motor deterioration 32 HP:0002333
39 progressive spasticity 32 HP:0002191
40 episodic fever 32 HP:0001954
41 eeg abnormality 32 HP:0002353
42 behavioral abnormality 56 Very frequent (99-80%)
43 abnormality of metabolism/homeostasis 56 Very frequent (99-80%)
44 peripheral demyelination 32 HP:0011096
45 cns demyelination 32 HP:0007305
46 abnormal flash visual evoked potentials 32 HP:0007928

UMLS symptoms related to Krabbe Disease:


seizures, vomiting, hyperirritability

MGI Mouse Phenotypes related to Krabbe Disease:

44 (showing 8, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ARSA CASP3 GALC JUN MBP PLA2G4A
2 hematopoietic system MP:0005397 9.97 ARSA CASP3 GALC JUN MBP PLA2G4A
3 cellular MP:0005384 9.95 CASP3 GALC JUN MBP PLA2G4A PLA2G6
4 homeostasis/metabolism MP:0005376 9.92 ARSA CASP3 GALC JUN MBP PLA2G4A
5 immune system MP:0005387 9.91 ARSA CASP3 CHIT1 GALC JUN MBP
6 nervous system MP:0003631 9.56 ARSA CASP3 GALC JUN MBP PLA2G4A
7 muscle MP:0005369 9.55 PLA2G4A PLA2G6 PSAP CASP3 GALC
8 vision/eye MP:0005391 9.1 PSAP CASP3 GALC JUN MBP PLA2G6

Drugs & Therapeutics for Krabbe Disease

Drugs for Krabbe Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 47, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
5 Alkylating Agents Phase 2, Phase 3
6 Antilymphocyte Serum Phase 2, Phase 3
7 Antirheumatic Agents Phase 2, Phase 3
8 Immunosuppressive Agents Phase 2, Phase 3
9 Methylprednisolone acetate Phase 2, Phase 3
10 Methylprednisolone Hemisuccinate Phase 2, Phase 3
11 Prednisolone acetate Phase 2, Phase 3
12 Prednisolone hemisuccinate Phase 2, Phase 3
13 Prednisolone phosphate Phase 2, Phase 3
14
alemtuzumab Approved, Investigational Phase 2 216503-57-0
15
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
16
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
17
Hydroxyurea Approved Phase 2 127-07-1 3657
18
Melphalan Approved Phase 2 148-82-3 4053 460612
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20
Mycophenolate mofetil Approved, Investigational Phase 2 128794-94-5 5281078
21
Mycophenolic acid Approved Phase 2 24280-93-1 446541
22
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
23
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
24
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
25
rituximab Approved Phase 2 174722-31-7 10201696
26 Thiotepa Approved Phase 2 52-24-4 5453
27
Mesna Approved Phase 2 3375-50-6 598
28 tannic acid Approved, Nutraceutical Phase 2
29 Tocopherol Approved, Nutraceutical Phase 2
30
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
31 Antifungal Agents Phase 2
32 Anti-Infective Agents Phase 2
33 Antimetabolites Phase 2
34 Antimetabolites, Antineoplastic Phase 2
35 Calcineurin Inhibitors Phase 2
36 Cyclosporins Phase 2
37 Dermatologic Agents Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 2
39 Anti-Bacterial Agents Phase 2
40 Antibiotics, Antitubercular Phase 2
41 N-monoacetylcystine Phase 2
42 Thioctic Acid Phase 2
43 Tocopherols Phase 2
44 Tocotrienols Phase 2
45 Vitamins Phase 2
46 Alpha-lipoic Acid Nutraceutical Phase 2
47 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6

Interventional clinical trials:

(showing 21, show less)

id Name Status NCT ID Phase Drugs
1 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
2 ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases Terminated NCT00654433 Phase 3
3 HSCT for High Risk Inherited Inborn Errors Completed NCT00383448 Phase 2 Clofarabine;Melphalan;Alemtuzumab;mycophenylate mofetil;Hydroxyurea
4 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
5 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
6 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders Active, not recruiting NCT01043640 Phase 2 Campath-1H;Cyclophosphamide;Busulfan;Cyclosporine A;Mycophenolate Mofetil
7 Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited Metabolic Disorders Active, not recruiting NCT01372228 Phase 1, Phase 2
8 Hematopoietic Stem Cell Transplantation (HCT) for Inborn Errors of Metabolism Terminated NCT00668564 Phase 2 Cyclophosphamide;Campath-1H;Busulfan
9 Safety and Exploratory Efficacy of HSC835 in Patients With Inherited Metabolic Disorders (IMD) Withdrawn NCT02715505 Phase 1, Phase 2 Umbilical cord blood transplantation with HSC835
10 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1 Human Placental Derived Stem Cell
11 UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells Recruiting NCT02254863 Phase 1
12 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
13 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
14 The Natural History of Infantile Globoid Cell Leukodystrophy Completed NCT00983879
15 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
16 Reduced-Intensity Hematopoietic Stem Cell Transplant for High Risk Lysosomal and Peroxisomal Disorders Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
17 Biomarker for Krabbe Disease Recruiting NCT01425489
18 Krabbe Disease Global Patient Registry Recruiting NCT02993796
19 Genetic Characterization of Movement Disorders and Dementias Recruiting NCT02014246
20 Diffusion Tensor Imaging (DTI) in Infants With Krabbe Disease Active, not recruiting NCT00787865
21 An Observational Study of Pediatric Subjects With Globoid Cell Leukodystrophy (GLD) Withdrawn NCT01093105

Search NIH Clinical Center for Krabbe Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Krabbe Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: leukodystrophy, globoid cell

Genetic Tests for Krabbe Disease

Genetic tests related to Krabbe Disease:

id Genetic test Affiliating Genes
1 Galactosylceramide Beta-Galactosidase Deficiency 29
2 Krabbe Disease 24 GALC

Anatomical Context for Krabbe Disease

MalaCards organs/tissues related to Krabbe Disease:

39
Brain, Bone, Bone Marrow, Eye, Testes, Skin, Spinal Cord

Publications for Krabbe Disease

Articles related to Krabbe Disease:

(showing 242, show less)
id Title Authors Year
1
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease. ( 28592445 )
2017
2
Krabbe Disease: Report of a Rare Lipid Storage and Neurodegenerative Disorder. ( 28168127 )
2017
3
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque with Severe Early-Onset Krabbe Disease. ( 28170189 )
2017
4
WITHDRAWN: Clinical and molecular analysis of six novel GALC mutations identified in 7 Chinese children with Krabbe disease. ( 28552323 )
2017
5
Stem cell transplantation in Krabbe disease: New truths discovered and opinions change. ( 28855407 )
2017
6
Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study. ( 28855403 )
2017
7
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity inA vitro. ( 28109651 )
2017
8
Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease. ( 28598007 )
2017
9
Clinical management of Krabbe disease. ( 27638597 )
2016
10
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 28442746 )
2016
11
Synthesis and evaluation of N-alkylated analogues of aza-galacto-fagomine - potential pharmacological chaperones for Krabbe disease. ( 27545315 )
2016
12
Ultrastructural Characterization of the Lower Motor System in a Mouse Model of Krabbe Disease. ( 27920424 )
2016
13
Metabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease. ( 27638595 )
2016
14
Gene therapy for CNS diseases - Krabbe disease. ( 27525222 )
2016
15
Mesenchymal Stem Cells Yield Transient Improvements in Motor Function in an Infant Rhesus Macaque With Severe Early-Onset Krabbe Disease. ( 27559102 )
2016
16
Insights into the Pathogenesis and Treatment of Krabbe Disease. ( 27491217 )
2016
17
Chaperones as potential therapeutics for Krabbe disease. ( 27638605 )
2016
18
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. ( 27171547 )
2016
19
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones. ( 27638604 )
2016
20
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants. ( 27126738 )
2016
21
My encounters with Krabbe disease: A personal recollection of a 40-Year journey with young colleagues. ( 27638581 )
2016
22
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease. ( 27679535 )
2016
23
Newborn screening for Krabbe disease in New York State: the first eight years' experience. ( 26795590 )
2016
24
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports. ( 27785412 )
2016
25
A specific activity-based probe to monitor family GH59 galactosylceramidase - the enzyme deficient in Krabbe disease. ( 28000364 )
2016
26
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease. ( 27780934 )
2016
27
A new mutation in an infant with Krabbe disease accompanied by enlargement of the optic nerves. ( 27040675 )
2016
28
Diffusion tensor imaging analysis of the brain in the canine model of Krabbe disease. ( 27677296 )
2016
29
Thickening of the cauda equina roots: a common finding in Krabbe disease. ( 27137647 )
2016
30
Krabbe disease: One Hundred years from the bedside to the bench to the bedside. ( 27638583 )
2016
31
Adult-onset Krabbe disease presenting as acute hemiparesis and progressive demyelination detected by diffusion-weighted imaging. ( 27423612 )
2016
32
RP-CARS reveals molecular spatial order anomalies in myelin of an animal model of Krabbe disease. ( 26990139 )
2016
33
Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia. ( 26915362 )
2016
34
Should states adopt newborn screening for early infantile Krabbe disease? ( 26845105 )
2016
35
Adult-onset Krabbe disease presenting with an isolated form of peripheral neuropathy. ( 26840509 )
2016
36
Challenge of phenotype estimation for optimal treatment of Krabbe disease. ( 27638587 )
2016
37
Brain angioarchitecture and intussusceptive microvascular growth in a murine model of Krabbe disease. ( 26310512 )
2015
38
Azasugar inhibitors as pharmacological chaperones for Krabbe disease. ( 26029356 )
2015
39
Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors. ( 26459425 )
2015
40
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease. ( 25762404 )
2015
41
Mechanism of neuromuscular dysfunction in Krabbe disease. ( 25632136 )
2015
42
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation. ( 26396125 )
2015
43
Midbrain morphology reflects extent of brain damage in Krabbe disease. ( 25859833 )
2015
44
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations. ( 26108143 )
2015
45
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease. ( 25844309 )
2015
46
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD). ( 27442402 )
2015
47
Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease. ( 25236689 )
2015
48
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings. ( 26108647 )
2015
49
Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report. ( 26567009 )
2015
50
Neuronal inclusions of I+-synuclein contribute to the pathogenesis of Krabbe disease. ( 24415155 )
2014
51
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with krabbe disease correspond to phenotype. ( 24262341 )
2014
52
Phenotypic variability of krabbe disease across the lifespan. ( 24384330 )
2014
53
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. ( 25193740 )
2014
54
History, genetic, and recent advances on Krabbe disease. ( 25260228 )
2014
55
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form. ( 24252386 )
2014
56
A novel homozygous GALC mutation: very early onset and rapidly progressive Krabbe disease. ( 23276707 )
2013
57
A high-throughput screening assay using Krabbe disease patient cells. ( 23138179 )
2013
58
Peripheral neuropathy in late-onset Krabbe disease: report of three cases. ( 22274816 )
2013
59
Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? ( 24388568 )
2013
60
Characterization of adipose-derived stromal/stem cells from the Twitcher mouse model of Krabbe disease. ( 23590629 )
2013
61
Structural snapshots illustrate the catalytic cycle of I^-galactocerebrosidase, the defective enzyme in Krabbe disease. ( 24297913 )
2013
62
Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. ( 23197103 )
2013
63
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. ( 23419961 )
2013
64
The sphingolipid psychosine inhibits fast axonal transport in Krabbe disease by activation of GSK3I^ and deregulation of molecular motors. ( 23761900 )
2013
65
Novel diffusion tensor imaging findings in Krabbe disease. ( 24149099 )
2013
66
Four novel GALC gene mutations in two Chinese patients with Krabbe disease. ( 23462331 )
2013
67
Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. ( 23620143 )
2013
68
Isolated pyramidal tract impairment in the central nervous system of adult-onset Krabbe disease with novel mutations in the GALC gene. ( 22959700 )
2013
69
Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy. ( 23622382 )
2013
70
Role of endogenous psychosine accumulation in oligodendrocyte differentiation and survival: implication for Krabbe disease. ( 23438514 )
2013
71
Stem cell transplantation for adult-onset krabbe disease: report of a case. ( 23430802 )
2013
72
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. ( 22991292 )
2012
73
Later onset phenotypes of Krabbe disease: results of the world-wide registry. ( 22520351 )
2012
74
Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease. ( 22964446 )
2012
75
Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. ( 22150413 )
2012
76
Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease. ( 22850681 )
2012
77
Intracranial optic nerve enlargement in infantile Krabbe disease. ( 22585439 )
2012
78
Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards. ( 22115770 )
2012
79
Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature. ( 23319190 )
2012
80
Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. ( 22704718 )
2012
81
Child Neurology: Krabbe disease: a potentially treatable white matter disorder. ( 23128445 )
2012
82
Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique. ( 22381022 )
2012
83
Krabbe disease: the importance of early diagnosis for prognosis. ( 23052461 )
2012
84
Detection of the neurotoxin psychosine in samples of peripheral blood: application in diagnostics and follow-up of Krabbe disease. ( 22742542 )
2012
85
Insights into Krabbe disease from structures of galactocerebrosidase. ( 21876145 )
2011
86
Selective corticospinal tract involvement in late-onset Krabbe disease. ( 21768595 )
2011
87
Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease. ( 21259322 )
2011
88
Predominant corticospinal tract involvement in early-onset Krabbe disease. ( 21215920 )
2011
89
Effect of intrastriatal mesenchymal stromal cell injection on progression of a murine model of Krabbe disease. ( 21840342 )
2011
90
Axonopathy is a compounding factor in the pathogenesis of Krabbe disease. ( 21373782 )
2011
91
Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective. ( 21285037 )
2011
92
Patient with unilateral white matter involvement does not have Krabbe disease. ( 21987556 )
2011
93
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. ( 21824559 )
2011
94
Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease. ( 22153408 )
2011
95
Genetic screening for Krabbe disease: learning from the past and looking to the future. ( 21344630 )
2011
96
Dangerous and expensive screening and treatment for rare childhood diseases: the case of Krabbe disease. ( 22447750 )
2011
97
Effect of psychosine on inducible nitric-oxide synthase expression under different culture conditions: implications for Krabbe disease. ( 22195360 )
2011
98
Normal neuroimaging in early-onset Krabbe disease. ( 21481747 )
2011
99
Unilateral white matter involvement in Krabbe disease. ( 21220686 )
2011
100
DTI registration in atlas based fiber analysis of infantile Krabbe disease. ( 21256236 )
2011
101
Successful cord blood transplantation in a 42-day-old boy with infantile Krabbe disease. ( 21479982 )
2011
102
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. ( 20886637 )
2010
103
Weighing the evidence for newborn screening for early-infantile Krabbe disease. ( 20601893 )
2010
104
Optic nerve enlargement and leukodystrophy: an unusual finding of the infantile form of Krabbe disease. ( 21049202 )
2010
105
Clinical signs and neuropathologic abnormalities in working Australian Kelpies with globoid cell leukodystrophy (Krabbe disease). ( 20839990 )
2010
106
Factors that affect postnatal bone growth retardation in the twitcher murine model of Krabbe disease. ( 20441793 )
2010
107
Newborn screening for Krabbe disease: the New York State model. ( 19302934 )
2009
108
Newborn screening for Krabbe disease: a model of cooperation. ( 19302936 )
2009
109
Implementation of newborn screening for Krabbe disease: population study and cutoff determination. ( 19318021 )
2009
110
Intracranial calcification after cord blood neonatal transplantation for krabbe disease. ( 20135576 )
2009
111
Pathogenesis of leukodystrophy for Krabbe disease: molecular mechanism and clinical treatment. ( 19332366 )
2009
112
Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York". ( 19436215 )
2009
113
The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. ( 19346954 )
2009
114
Selective white matter involvement in a patient with late onset Krabbe disease: MR, MR spectroscopy, and diffusion tensor study. ( 19141067 )
2009
115
Diffusion tensor imaging detects abnormalities in the corticospinal tracts of neonates with infantile Krabbe disease. ( 19386732 )
2009
116
Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease. ( 20446225 )
2009
117
Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease. ( 19185028 )
2009
118
Krabbe disease: an overview. ( 20040316 )
2009
119
Gene symbol: GALC. Disease: Krabbe disease. ( 18846620 )
2008
120
Optic nerve and chiasm enlargement in a case of infantile Krabbe disease: quantitative comparison with 26 age-matched controls. ( 18438656 )
2008
121
Thickening and enhancement of multiple cranial nerves in conjunction with cystic white matter lesions in early infantile Krabbe disease. ( 18265968 )
2008
122
The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe disease. ( 18248608 )
2008
123
Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease. ( 18246117 )
2008
124
The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. ( 17824908 )
2007
125
Autonomic denervation of lymphoid organs leads to epigenetic immune atrophy in a mouse model of Krabbe disease. ( 18077684 )
2007
126
A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. ( 17579360 )
2007
127
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. ( 17291472 )
2007
128
Diagnosis of Krabbe disease by use of a natural substrate. ( 17072020 )
2006
129
Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation. ( 16864820 )
2006
130
Peripheral nerve involvement in Krabbe disease: a guide to therapy selection and evaluation. ( 16864808 )
2006
131
Krabbe disease: unusual MRI findings. ( 16247616 )
2006
132
Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death. ( 16645197 )
2006
133
Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. ( 16864819 )
2006
134
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation. ( 16607461 )
2006
135
Neurophysiologic studies in Krabbe disease. ( 16893123 )
2006
136
Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type. ( 16876017 )
2006
137
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation. ( 16923928 )
2006
138
Krabbe disease treated with hematopoietic stem cell transplantation: serial assessment of anisotropy measurements--initial experience. ( 15987975 )
2005
139
Krabbe disease--a case report. ( 16498763 )
2005
140
Serial electrophysiologic studies in rhesus monkeys with Krabbe disease. ( 15937878 )
2005
141
Hematopoietic cell transplantation ameliorates clinical phenotype and progression of the CNS pathology in the mouse model of late onset Krabbe disease. ( 16042308 )
2005
142
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. ( 15773042 )
2005
143
Quantitative analysis of diffusion tensor imaging data in serial assessment of Krabbe disease. ( 16394159 )
2005
144
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis. ( 16417879 )
2005
145
Globoid cell leukodystrophy (Krabbe disease): normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations. ( 16435193 )
2005
146
Widespread and highly persistent gene transfer to the CNS by retrovirus vector in utero: implication for gene therapy to Krabbe disease. ( 15685691 )
2005
147
Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease. ( 14981030 )
2004
148
Familial infantile globoid cell leukodystrophy (Krabbes disease). ( 15123879 )
2004
149
Krabbe disease: neurophysiologic studies and MRI correlations. ( 15326231 )
2004
150
Late infantile onset krabbe disease in siblings with cortical degeneration and absence of cerebral globoid cells. ( 15534764 )
2004
151
Brain-stem auditory and visual evoked potentials in children with Krabbe disease. ( 15203066 )
2004
152
[From gene to disease; Krabbe disease and galactosylceramidase deficiency]. ( 15141649 )
2004
153
Transgenic rescue of Krabbe disease in the twitcher mouse. ( 15164096 )
2004
154
Early peripheral nervous system manifestations of infantile Krabbe disease. ( 12699861 )
2003
155
Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease. ( 12629240 )
2003
156
Adult onset Krabbe disease may mimic motor neurone disease. ( 12948479 )
2003
157
Infantile Krabbe disease. ( 14623741 )
2003
158
Residual galactosylsphingosine (psychosine) beta-galactosidase activities and associated GALC mutations in late and very late onset Krabbe disease. ( 11814461 )
2002
159
Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated inducible nitric oxide synthases via AP-1 and C/EBP: implications for Krabbe disease. ( 11978730 )
2002
160
Evaluation of white matter anisotropy in Krabbe disease with diffusion tensor MR imaging: initial experience. ( 11230660 )
2001
161
Generation of a mouse with low galactocerebrosidase activity by gene targeting: a new model of globoid cell leukodystrophy (Krabbe disease). ( 11461188 )
2001
162
Evidence of diffuse brain pathology and unspecific genetic characterization in a patient with an atypical form of adult-onset Krabbe disease. ( 10787123 )
2000
163
Murine, canine and non-human primate models of Krabbe disease. ( 11074371 )
2000
164
Evaluation of the accuracy of enzymatically determined carrier status for Krabbe disease by DNA-based testing. ( 10913522 )
2000
165
Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast: preliminary results. ( 10752900 )
2000
166
Krabbe disease: genetic aspects and progress toward therapy. ( 10833326 )
2000
167
MR imaging and proton MR spectroscopy in adult Krabbe disease. ( 11003282 )
2000
168
Krabbe disease--clinical profile. ( 10992329 )
2000
169
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease. ( 11151421 )
2000
170
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. ( 10448809 )
1999
171
Molecular heterogeneity of Krabbe disease. ( 10234611 )
1999
172
Genetic galactocerebrosidase deficiency (globoid cell leukodystrophy, Krabbe disease) in rhesus monkeys (Macaca mulatta). ( 10090061 )
1998
173
MRI nerve root enhancement in Krabbe disease. ( 9744639 )
1998
174
Early infantile Krabbe disease: deceptively normal magnetic resonance imaging and serial neurophysiological studies. ( 9408597 )
1997
175
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications. ( 9338580 )
1997
176
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease. ( 10464649 )
1997
177
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination. ( 9371928 )
1997
178
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin. ( 9266397 )
1997
179
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients. ( 9272171 )
1997
180
Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. ( 9192853 )
1997
181
Krabbe disease: an ultrastructural study of globoid cells and reactive astrocytes at the brain and optic nerves. ( 9595850 )
1997
182
Serial MRI and neurophysiological studies in late-infantile Krabbe disease. ( 8916164 )
1996
183
Differentiation of rare leukodystrophies by post-mortem morphological and biochemical studies: female adrenoleukodystrophy-like disease and late-onset Krabbe disease. ( 8677024 )
1996
184
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). ( 8723112 )
1996
185
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease. ( 8687180 )
1996
186
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel. ( 8786069 )
1996
187
A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease. ( 7581365 )
1995
188
The twitcher mouse: a model for Krabbe disease and for experimental therapies. ( 8520724 )
1995
189
Molecular defects in Krabbe disease. ( 8595408 )
1995
190
[Krabbe disease (globoid cell leukodystrophy)]. ( 8577041 )
1995
191
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. ( 8634707 )
1995
192
Electron microscopic finding of eccrine sweat gland epithelial cells in a patient with Krabbe disease. ( 7572154 )
1995
193
Deceptively normal MR in early infantile Krabbe disease. ( 8141050 )
1994
194
Early infantile form of Krabbe disease with optic hypertrophy: serial MR examinations and autopsy correlation. ( 7985562 )
1994
195
Krabbe disease: isolation and characterization of a full-length cDNA for human galactocerebrosidase. ( 8297359 )
1994
196
Early differential diagnosis of infantile neuronal ceroid lipofuscinosis, Rett syndrome, and Krabbe disease by CT and MR. ( 7985561 )
1994
197
Pathological and biochemical studies of fetal Krabbe disease. ( 7695000 )
1994
198
Auditory evoked responses in Krabbe disease. ( 8292214 )
1993
199
Infantile Krabbe disease: complementary CT and MR findings. ( 8237697 )
1993
200
Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. ( 8311994 )
1993
201
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. ( 8250040 )
1993
202
Krabbe Disease ( 20301416 )
1993
203
Serial MRI and CT findings in infantile Krabbe disease. ( 1476576 )
1992
204
Characterization of 6-hexadecanoylamino-4-methylumbelliferyl-beta-D- galactopyranoside as fluorogenic substrate of galactocerebrosidase for the diagnosis of Krabbe disease. ( 1521344 )
1992
205
Use of a fluorogenic substrate, 6-hexadecanoylamino-4-methylumbelliferyl-beta-D-galactopyranoside, in the diagnosis of Krabbe disease. ( 1779655 )
1991
206
Krabbe disease in monozygotic triplets. ( 1778346 )
1991
207
Psychosine cytotoxicity toward rat C6 glioma cells and the protective effects of phorbol ester and dimethylsulfoxide: implications for therapy in Krabbe disease. ( 1654028 )
1991
208
Palatal myoclonus in Krabbe disease. ( 1785660 )
1991
209
Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. ( 1817026 )
1991
210
MRI and CT findings in Krabbe disease. ( 1930420 )
1991
211
Somatic cell genetic analysis of the galactocerebrosidase gene: lack of complementation in human Krabbe disease/twitcher mouse cell hybrids. ( 2079710 )
1990
212
Krabbe disease locus mapped to chromosome 14 by genetic linkage. ( 1971996 )
1990
213
Prenatal enzymatic diagnosis of Krabbe disease (globoid-cell leukodystrophy) using chorionic villi. Pitfalls in the use of uncultured villi. ( 2606482 )
1989
214
A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase. ( 3369670 )
1988
215
Detection of Krabbe disease using tritiated galactosylceramides with medium-chain fatty acids. ( 3681116 )
1987
216
Krabbe disease and protruding ears. ( 3425640 )
1987
217
Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency. ( 2907603 )
1986
218
Krabbe disease: specific MRI and CT findings. ( 3941765 )
1986
219
Krabbe disease: increased incidence in a highly inbred community. ( 4025402 )
1985
220
Use of mixed dispersion of fluorescent galactosylceramide and sodium dodecylsulfate for assaying galactosylceramide-beta-galactosidase and diagnosing Krabbe disease. ( 4054076 )
1985
221
Computed tomography and magnetic resonance imaging in late-onset globoid cell leukodystrophy (Krabbe disease). ( 3880410 )
1985
222
Genetic galactosylceramidase deficiency (globoid cell leukodystrophy, Krabbe disease) in different mammalian species. ( 3895053 )
1985
223
Specific CT findings in Krabbe disease. ( 6331756 )
1984
224
Prenatal diagnosis of Krabbe disease using a fluorescent derivative of galactosylceramide. ( 6488564 )
1984
225
Lipids of developing brain of twitcher mouse. An authentic murine model of human Krabbe disease. ( 6850275 )
1983
226
The use of galactosylceramides with uniform fatty acids as substrates in the diagnosis and carrier detection of Krabbe disease. ( 7151275 )
1982
227
Prenatal enzymic diagnosis in 24 pregnancies with risk of Krabbe disease . ( 7094344 )
1982
228
Glycosylceramide synthesis in the developing spinal cord and kidney of the twitcher mouse, an enzymatically authentic model of human Krabbe disease. ( 6811701 )
1982
229
Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts. ( 6806321 )
1982
230
Prenatal diagnosis of Krabbe disease: galactosylceramide metabolism in cultured amniotic fluid cells. ( 7131154 )
1982
231
Use of leukocytes in diagnosis of Krabbe disease and detection of carriers. ( 7237832 )
1981
232
Prenatal diagnosis of Krabbe disease. ( 7307314 )
1981
233
The interrelations between high- and low-molecular weight forms of normal and mutant (Krabbe-disease) galactocerebrosidase. ( 7458907 )
1980
234
Krabbe disease: a galactosylsphingosine (psychosine) lipidosis. ( 7354254 )
1980
235
The Twitcher mouse: an enzymatically authentic model of human globoid cell leukodystrophy (Krabbe disease). ( 7437911 )
1980
236
Galactosylceramide beta-galactosidase in Krabbe disease: partial purification and characterization of the mutant enzyme. ( 507819 )
1979
237
The nature of mutation in Krabbe disease. ( 85413 )
1978
238
Sphingolipid beta-D-galactosidases in globoid cell leukodystrophy (Krabbe disease). ( 103589 )
1978
239
Chemical pathology of Krabbe disease: the occurrence of psychosine and other neutral sphingoglycolipids. ( 937104 )
1976
240
Possible misdiagnosis of Krabbe disease. ( 1245944 )
1976
241
Fetal globoid cell leukocystrophy (Krabbe disease). Pathological and biochemical examination. ( 4728185 )
1973
242
Remarks on the Sturge-Kalischer-Weber-Dimitri-Krabbe disease. ( 13301888 )
1955

Variations for Krabbe Disease

UniProtKB/Swiss-Prot genetic disease variations for Krabbe Disease:

71 (showing 45, show less)
id Symbol AA change Variation ID SNP ID
1 GALC p.Gly111Asp VAR_003380 rs746487628
2 GALC p.Gly111Ser VAR_003381 rs756690487
3 GALC p.Thr112Ala VAR_003382 rs147313927
4 GALC p.Met117Leu VAR_003383
5 GALC p.Asp187Val VAR_003384
6 GALC p.Gly194Ala VAR_003385
7 GALC p.Ile250Thr VAR_003387
8 GALC p.Ala263Thr VAR_003388
9 GALC p.Gly284Ser VAR_003389 rs377274761
10 GALC p.Gly286Asp VAR_003390 rs199847983
11 GALC p.Asn295Thr VAR_003391 rs746922378
12 GALC p.Ser303Phe VAR_003392 rs756352952
13 GALC p.Pro318Ala VAR_003393
14 GALC p.Arg396Trp VAR_003394 rs770485731
15 GALC p.Pro400Leu VAR_003395
16 GALC p.Thr468Ser VAR_003396 rs34134328
17 GALC p.Phe514Ser VAR_003397 rs375867319
18 GALC p.Thr529Met VAR_003398 rs200960659
19 GALC p.Arg531Cys VAR_003399 rs749893889
20 GALC p.Asp544Asn VAR_003400 rs387906952
21 GALC p.Val566Gly VAR_003402
22 GALC p.Tyr567Ser VAR_003403 rs752537626
23 GALC p.Ala592Ser VAR_003404
24 GALC p.Ile599Ser VAR_003405 rs387906953
25 GALC p.Leu645Arg VAR_003407 rs780593419
26 GALC p.Gly59Arg VAR_013956
27 GALC p.Ser68Phe VAR_013957
28 GALC p.Arg79His VAR_013958 rs370117160
29 GALC p.Ile82Met VAR_013959
30 GALC p.Thr278Ile VAR_013961
31 GALC p.Tyr314Cys VAR_013963
32 GALC p.Tyr335Cys VAR_013964 rs757407613
33 GALC p.Trp426Gly VAR_013965
34 GALC p.Arg531His VAR_013966 rs200378205
35 GALC p.Gly553Arg VAR_013967 rs748573754
36 GALC p.Leu634Ser VAR_013968 rs138577661
37 GALC p.Thr668Arg VAR_013969
38 GALC p.Gly41Ser VAR_064431 rs387906955
39 GALC p.Glu130Lys VAR_064432 rs374635469
40 GALC p.Pro318Arg VAR_064433 rs387906954
41 GALC p.Gly323Arg VAR_064434
42 GALC p.Ile384Thr VAR_064435
43 GALC p.Arg396Leu VAR_064436
44 GALC p.Tyr490Asn VAR_064437 rs202135871
45 GALC p.Val681Met VAR_069512 rs200607029

ClinVar genetic disease variations for Krabbe Disease:

6 (showing 54, show less)
id Gene Variation Type Significance SNP ID Assembly Location
1 GALC NM_000153.3(GALC): c.1153G> T (p.Glu385Ter) single nucleotide variant Pathogenic rs121908010 GRCh37 Chromosome 14, 88429736: 88429736
2 GALC GALC, 30-KB DEL, IVS10 deletion Pathogenic
3 GALC NM_000153.3(GALC): c.1630G> A (p.Asp544Asn) single nucleotide variant Pathogenic rs387906952 GRCh37 Chromosome 14, 88411937: 88411937
4 GALC NM_000153.3(GALC): c.1796T> G (p.Ile599Ser) single nucleotide variant Pathogenic rs387906953 GRCh37 Chromosome 14, 88407777: 88407777
5 GALC GALC, GLY553ARG single nucleotide variant Pathogenic
6 GALC GALC, IVS13DS, G-A, +1 single nucleotide variant Pathogenic
7 GALC GALC, 1-BP DEL, 1901T deletion Pathogenic
8 GALC NM_000153.3(GALC): c.857G> A (p.Gly286Asp) single nucleotide variant Pathogenic/Likely pathogenic rs199847983 GRCh37 Chromosome 14, 88434730: 88434730
9 GALC NM_000153.3(GALC): c.953C> G (p.Pro318Arg) single nucleotide variant Pathogenic rs387906954 GRCh37 Chromosome 14, 88431929: 88431929
10 GALC NM_000153.3(GALC): c.121G> A (p.Gly41Ser) single nucleotide variant Pathogenic rs387906955 GRCh37 Chromosome 14, 88459388: 88459388
11 GALC NM_000153.3(GALC): c.1161+2T> G single nucleotide variant Pathogenic rs398123175 GRCh37 Chromosome 14, 88429726: 88429726
12 GALC NM_000153.3(GALC): c.862T> C (p.Trp288Arg) single nucleotide variant Likely pathogenic rs398123177 GRCh37 Chromosome 14, 88434725: 88434725
13 GALC NM_000153.3(GALC): c.1592G> A (p.Arg531His) single nucleotide variant Pathogenic/Likely pathogenic rs200378205 GRCh38 Chromosome 14, 87945631: 87945631
14 GALC NM_000153.3(GALC): c.1700A> C (p.Tyr567Ser) single nucleotide variant Pathogenic/Likely pathogenic rs752537626 GRCh37 Chromosome 14, 88407873: 88407873
15 GALC NM_000153.3(GALC): c.1657G> A (p.Gly553Arg) single nucleotide variant Likely pathogenic rs748573754 GRCh37 Chromosome 14, 88411910: 88411910
16 GALC NM_000153.3(GALC): c.1591C> T (p.Arg531Cys) single nucleotide variant Likely pathogenic rs749893889 GRCh37 Chromosome 14, 88411976: 88411976
17 GALC NM_000153.3(GALC): c.1472delA (p.Lys491Argfs) deletion Pathogenic rs771489305 GRCh37 Chromosome 14, 88414089: 88414089
18 GALC NM_000153.3(GALC): c.955delT (p.Tyr319Metfs) deletion Pathogenic/Likely pathogenic rs786204454 GRCh37 Chromosome 14, 88431927: 88431927
19 GALC NM_000153.3(GALC): c.908+1G> A single nucleotide variant Likely pathogenic rs750524447 GRCh37 Chromosome 14, 88434678: 88434678
20 GALC NM_000153.3(GALC): c.658C> T (p.Arg220Ter) single nucleotide variant Likely pathogenic rs766310671 GRCh37 Chromosome 14, 88442796: 88442796
21 GALC NM_000153.3(GALC): c.599C> A (p.Ser200Ter) single nucleotide variant Likely pathogenic rs786204618 GRCh37 Chromosome 14, 88448571: 88448571
22 GALC NM_000153.3(GALC): c.489G> A (p.Trp163Ter) single nucleotide variant Likely pathogenic rs761550284 GRCh38 Chromosome 14, 87984487: 87984487
23 GALC NM_000153.3(GALC): c.388G> A (p.Glu130Lys) single nucleotide variant Likely pathogenic rs374635469 GRCh37 Chromosome 14, 88452887: 88452887
24 GALC NM_000153.3(GALC): c.169G> A (p.Gly57Ser) single nucleotide variant Pathogenic rs11623 GRCh37 Chromosome 14, 88459340: 88459340
25 GALC NM_000153.3(GALC): c.1543G> A (p.Glu515Lys) single nucleotide variant Likely pathogenic rs794727116 GRCh37 Chromosome 14, 88412024: 88412024
26 GALC NM_000153.3(GALC): c.205C> T (p.Arg69Ter) single nucleotide variant Pathogenic rs771111145 GRCh37 Chromosome 14, 88454858: 88454858
27 GALC NM_000153.3(GALC): c.430delA (p.Ile144Leufs) deletion Pathogenic rs775277935 GRCh37 Chromosome 14, 88452845: 88452845
28 GALC NM_000153.3(GALC): c.331G> A (p.Gly111Ser) single nucleotide variant Pathogenic rs756690487 GRCh37 Chromosome 14, 88452944: 88452944
29 GALC NM_000153.3(GALC): c.195G> C (p.Gly65=) single nucleotide variant Likely pathogenic rs886042057 GRCh38 Chromosome 14, 87992970: 87992970
30 GALC NM_000153.3(GALC): c.243_244insAG (p.Ile82Argfs) insertion Pathogenic rs886043419 GRCh37 Chromosome 14, 88454819: 88454820
31 GALC NM_000153.3(GALC): c.1541T> C (p.Phe514Ser) single nucleotide variant Likely pathogenic rs375867319 GRCh37 Chromosome 14, 88412026: 88412026
32 GALC NM_000153.3(GALC): c.628A> T (p.Arg210Ter) single nucleotide variant Pathogenic rs202131052 GRCh37 Chromosome 14, 88442826: 88442826
33 GALC NM_000153.3(GALC): c.1890T> A (p.Tyr630Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057516453 GRCh38 Chromosome 14, 87939926: 87939926
34 GALC NM_000153.3(GALC): c.1851delT (p.Tyr617Terfs) deletion Likely pathogenic rs1057516433 GRCh38 Chromosome 14, 87939965: 87939965
35 GALC NM_000153.3(GALC): c.1837G> T (p.Gly613Ter) single nucleotide variant Likely pathogenic rs1057517033 GRCh37 Chromosome 14, 88406323: 88406323
36 GALC NM_000153.3(GALC): c.1670+1G> A single nucleotide variant Likely pathogenic rs749597090 GRCh38 Chromosome 14, 87945552: 87945552
37 GALC NM_000153.3(GALC): c.1586C> T (p.Thr529Met) single nucleotide variant Likely pathogenic rs200960659 GRCh38 Chromosome 14, 87945637: 87945637
38 GALC NM_000153.3(GALC): c.1426dupA (p.Ser476Lysfs) duplication Likely pathogenic rs1057517082 GRCh38 Chromosome 14, 87947791: 87947791
39 GALC NM_000153.3(GALC): c.1272_1273insTAG (p.Val425_Arg685del) insertion Likely pathogenic rs1057517372 GRCh37 Chromosome 14, 88416254: 88416255
40 GALC NM_000153.3(GALC): c.1273delG (p.Val425Tyrfs) deletion Likely pathogenic rs1057516394 GRCh37 Chromosome 14, 88416254: 88416254
41 GALC NM_000153.3(GALC): c.1065G> A (p.Trp355Ter) single nucleotide variant Likely pathogenic rs1057516270 GRCh38 Chromosome 14, 87963480: 87963480
42 GALC NM_000153.3(GALC): c.1021delG (p.Val341Serfs) deletion Likely pathogenic rs1057517382 GRCh38 Chromosome 14, 87965517: 87965517
43 GALC NM_000153.3(GALC): c.1012delG (p.Glu338Asnfs) deletion Likely pathogenic rs1057516469 GRCh38 Chromosome 14, 87965526: 87965526
44 GALC NM_000153.3(GALC): c.972delG (p.Met325Terfs) deletion Likely pathogenic rs1057516808 GRCh38 Chromosome 14, 87965566: 87965566
45 GALC NM_000153.3(GALC): c.952C> G (p.Pro318Ala) single nucleotide variant Likely pathogenic rs1057516642 GRCh38 Chromosome 14, 87965586: 87965586
46 GALC NM_000153.3(GALC): c.946C> T (p.Gln316Ter) single nucleotide variant Likely pathogenic rs776368825 GRCh38 Chromosome 14, 87965592: 87965592
47 GALC NM_000153.3(GALC): c.533G> A (p.Trp178Ter) single nucleotide variant Likely pathogenic rs968905231 GRCh37 Chromosome 14, 88450787: 88450787
48 GALC NM_000153.3(GALC): c.467_468dupGG (p.Leu157Glyfs) duplication Likely pathogenic rs1057517185 GRCh38 Chromosome 14, 87984508: 87984509
49 GALC NM_000153.3(GALC): c.442+2T> G single nucleotide variant Likely pathogenic rs1057516632 GRCh38 Chromosome 14, 87986487: 87986487
50 GALC NM_000153.3(GALC): c.415A> T (p.Lys139Ter) single nucleotide variant Likely pathogenic rs1057516673 GRCh38 Chromosome 14, 87986516: 87986516
51 GALC NM_000153.3(GALC): c.328+1G> T single nucleotide variant Likely pathogenic rs779701490 GRCh38 Chromosome 14, 87988143: 87988143
52 GALC NM_000153.3(GALC): c.190_195+9del15 deletion Likely pathogenic rs1057517187 GRCh37 Chromosome 14, 88459305: 88459319
53 GALC NM_000153.3(GALC): c.129C> G (p.Tyr43Ter) single nucleotide variant Likely pathogenic rs1057516816 GRCh37 Chromosome 14, 88459380: 88459380
54 GALC NM_001201401.1(GALC): c.194G> A (p.Gly65Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 14, 88459315: 88459315

Expression for Krabbe Disease

Search GEO for disease gene expression data for Krabbe Disease.

Pathways for Krabbe Disease

Pathways related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 22, show less)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 CASP3 JUN PLA2G2A PLA2G4A PLA2G6
2
Show member pathways
12.78 JUN PLA2G2A PLA2G4A PLA2G6
3
Show member pathways
12.65 JUN PLA2G2A PLA2G4A PLA2G6
4
Show member pathways
12.61 JUN PLA2G2A PLA2G4A PLA2G6
5
Show member pathways
12.59 JUN PLA2G2A PLA2G4A PLA2G6
6
Show member pathways
12.39 CASP3 JUN PLA2G4A PLA2G6
7
Show member pathways
12.16 ARSA GALC PSAP
8
Show member pathways
11.86 CASP3 JUN MBP
9
Show member pathways
11.83 PLA2G2A PLA2G4A PLA2G6
10 11.63 ARSA GALC PSAP
11
Show member pathways
11.56 PLA2G2A PLA2G4A PLA2G6
12
Show member pathways
11.5 CASP3 JUN PLA2G2A PLA2G4A PLA2G6
13 11.34 CASP3 MBP PLA2G2A PLA2G6
14 11.31 CASP3 JUN
15 11.31 PLA2G2A PLA2G4A
16
Show member pathways
11.28 PLA2G2A PLA2G4A
17 11.25 CASP3 JUN PLA2G4A
18 11.1 JUN PLA2G4A
19 11.1 CASP3 PLA2G2A PLA2G4A
20 10.97 PLA2G4A PLA2G6
21 10.96 PLA2G2A PLA2G4A
22 10.86 PLA2G2A PLA2G6

GO Terms for Krabbe Disease

Cellular components related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 2, show less)
id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.26 ARSA CHIT1 GALC PSAP
2 lysosomal lumen GO:0043202 8.8 ARSA GALC PSAP

Biological processes related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 14, show less)
id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.77 GALC PLA2G2A PLA2G4A PLA2G6 PSAP
2 metabolic process GO:0008152 9.72 ARSA CHIT1 GALC PLA2G4A PLA2G6
3 positive regulation of neuron apoptotic process GO:0043525 9.54 CASP3 JUN
4 phosphatidic acid biosynthetic process GO:0006654 9.52 PLA2G2A PLA2G4A
5 cellular response to organic substance GO:0071310 9.51 CASP3 PSAP
6 sphingolipid metabolic process GO:0006665 9.49 GALC PSAP
7 arachidonic acid secretion GO:0050482 9.48 PLA2G2A PLA2G4A
8 phosphatidylserine acyl-chain remodeling GO:0036150 9.46 PLA2G2A PLA2G4A
9 phosphatidylglycerol acyl-chain remodeling GO:0036148 9.43 PLA2G2A PLA2G4A
10 glycosphingolipid metabolic process GO:0006687 9.43 ARSA GALC PSAP
11 phosphatidylinositol acyl-chain remodeling GO:0036149 9.4 PLA2G2A PLA2G4A
12 phosphatidylcholine acyl-chain remodeling GO:0036151 9.33 PLA2G2A PLA2G4A PLA2G6
13 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.13 PLA2G2A PLA2G4A PLA2G6
14 lipid catabolic process GO:0016042 8.92 GALC PLA2G2A PLA2G4A PLA2G6

Molecular functions related to Krabbe Disease according to GeneCards Suite gene sharing:

(showing 3, show less)
id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.5 ARSA CASP3 CHIT1 GALC PLA2G2A PLA2G4A
2 calcium-dependent phospholipase A2 activity GO:0047498 9.16 PLA2G2A PLA2G4A
3 phospholipase A2 activity GO:0004623 8.8 PLA2G2A PLA2G4A PLA2G6

Sources for Krabbe Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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