1 |
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
38
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Wali G...Kumar KR
|
31064022
|
2019 |
2 |
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
38
|
Aminzadeh M...Ghandil P
|
31009684
|
2019 |
3 |
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.
38
|
Yamazaki N...Okuyama T
|
30755342
|
2019 |
4 |
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
38
|
Guffon N...Chevallier B
|
30740618
|
2019 |
5 |
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
38
|
Kantaputra PN...Tanpaiboon P
|
30653816
|
2019 |
6 |
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
38
|
Kuiper GA...Wijburg FA
|
30658664
|
2019 |
7 |
Orthopaedic challenges for mucopolysaccharidoses.
38
|
Borgo A...Carbone M
|
30442173
|
2018 |
8 |
Genetic Testing of a Large Consanguineous Pakistani Family Affected with Mucolipidosis III Gamma Through Next-Generation Sequencing.
38
|
Khan MA...Naeem M
|
30235039
|
2018 |
9 |
Mucopolysaccharidoses: overview of neuroimaging manifestations.
38
|
Nicolas-Jilwan M...AlSayed M
|
29752520
|
2018 |
10 |
Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.
38
|
Bleier M...University of British Columbia
|
30094186
|
2018 |
11 |
Mucolipidosis type III, a series of adult patients.
38
|
Oussoren E...Langeveld M
|
29704188
|
2018 |
12 |
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.
38
|
Kang E...Lee BH
|
29654786
|
2018 |
13 |
Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.
38
|
Mohammad AN...Atwal PS
|
30023283
|
2018 |
14 |
Clinical features of Mexican patients with Mucopolysaccharidosis type I.
38
|
Alonzo-Rojo A...Figuera-Villanueva LE
|
28973713
|
2017 |
15 |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.
38
|
Barth AL...Horovitz DDG
|
28649514
|
2017 |
16 |
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).
38
|
Harmatz P...MPS VI Study Group
|
28457718
|
2017 |
17 |
Mucopolysaccharidoses - Clinical Spectrum and Frequency of Different Types.
38
|
Cheema HA...Shahzadi N
|
28292383
|
2017 |
18 |
I Cell Disease (Mucolipidosis II Alpha/Beta): From Screening to Molecular Diagnosis.
38
|
Singh A...Mishra OP
|
27785713
|
2017 |
19 |
A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.
38
|
Dursun A...Ozgul RK
|
27547915
|
2017 |
20 |
Early characteristic radiographic changes in mucolipidosis II.
38
|
Lai LM...Lachman RS
|
27525427
|
2016 |
21 |
Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know.
38
|
Reichert R...Vedolin LM
|
27618324
|
2016 |
22 |
Sialidoses.
38
|
Franceschetti S...Canafoglia L
|
27621198
|
2016 |
23 |
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/beta.
38
|
Shibazaki T...Koike K
|
26789537
|
2016 |
24 |
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease.
38
|
Ediz SS...Alkan A
|
26515723
|
2016 |
25 |
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.
38
|
Langereis EJ...Wijburg FA
|
26935461
|
2016 |
26 |
Musculoskeletal/Radiological Manifestations of Mucolipidosis II (I-Cell disease) in late Adolescence/Early Adulthood.
38
|
Gholamrezanezhad A...Robbin M
|
29073299
|
2016 |
27 |
Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux-Lamy Syndrome.
38
|
Pineda M...Garcia-Fructuoso G
|
26920906
|
2016 |
28 |
Clinical and neuroradiological approach to fucosidosis in a child with atypical presentation.
38
|
Zubarioglu T...Yalcinkaya C
|
26713028
|
2015 |
29 |
Hunter syndrome with late age of presentation: clinical description of a case and review of the literature.
38
|
Gupta A...Girisha KM
|
25976201
|
2015 |
30 |
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
38
|
Choy YS...McGill J
|
25892708
|
2015 |
31 |
The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders.
38
|
Clarke LA...Hollak CE
|
25987175
|
2015 |
32 |
Airway-related symptoms and surgeries in patients with mucopolysaccharidosis I.
38
|
Arn P...Fallet S
|
25214650
|
2015 |
33 |
Spinal involvement in mucopolysaccharidoses: a review.
38
|
Leone A...Colosimo C
|
25358811
|
2015 |
34 |
Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.
38
|
Kannebley JS...Steiner CE
|
26108645
|
2015 |
35 |
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.
38
|
Johnson BA...Bodamer OA
|
25599668
|
2015 |
36 |
Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I.
38
|
Watson HA...Bigger BW
|
25359774
|
2014 |
37 |
Mucopolysaccharidosis type I.
38
|
Wraith JE...Jones S
|
25345091
|
2014 |
38 |
Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.
38
|
Nampoothiri S...Superti-Furga A
|
25044831
|
2014 |
39 |
Whole-exome sequencing expands the phenotype of Hunter syndrome.
38
|
Nikkel SM...FORGE Canada Consortium
|
23844659
|
2014 |
40 |
Molecular evaluation of a novel missense mutation & an insertional truncating mutation in SUMF1 gene.
38
|
Kotecha UH...Verma IC
|
25222778
|
2014 |
41 |
A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.
38
|
Kilic E...Alanay Y
|
25818965
|
2014 |
42 |
Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin.
38
|
Gautschi M...Fluss J
|
24636010
|
2014 |
43 |
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
38
|
Zheng J...Liu L
|
25190157
|
2014 |
44 |
Siblings with fucosidosis.
38
|
Muthusamy K...Benjamin RN
|
25250075
|
2014 |
45 |
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) in the pre-Columbian culture of Colombia.
38
|
Pachajoa H...Rodriguez CA
|
25100895
|
2014 |
46 |
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
38
|
Lachman RS...White KK
|
24389823
|
2014 |
47 |
Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.
38
|
Annibali R...Ficcadenti A
|
24056375
|
2013 |
48 |
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
38
|
AlBakheet A...Al-Sayed M
|
23685283
|
2013 |
49 |
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
38
|
Hendriksz CJ...Tomatsu S
|
23665161
|
2013 |
50 |
Mucopolysaccharidosis type II with inguinal hernia.
38
|
Rayamajhi A...Rayamajhi AK
|
24908534
|
2013 |