| 1 |
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings. ( 30755342
)
|
Yamazaki N...Okuyama T
|
2019 |
| 2 |
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I. ( 29654546
)
|
Bush D...Baker P
|
2019 |
| 3 |
Urticarial vasculitis and subcutaneous nodules in the extremities seen in a patient with mucopolysaccharidosis II after hematopoietic stem cell therapy. ( 30047587
)
|
Shibata A...Akiyama M
|
2019 |
| 4 |
Distribution of heparan sulfate and dermatan sulfate in mucopolysaccharidosis type II mouse tissues pre- and post-enzyme-replacement therapy determined by UPLC-MS/MS. ( 30994022
)
|
Menkovic I...Auray-Blais C
|
2019 |
| 5 |
Pharmacokinetic and Pharmacodynamic Modeling to Optimize the Dose of Vestronidase Alfa, an Enzyme Replacement Therapy for Treatment of Patients with Mucopolysaccharidosis Type VII: Results from Three Trials. ( 30467742
)
|
Qi Y...Shi J
|
2019 |
| 6 |
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. ( 30653816
)
|
Kantaputra PN...Tanpaiboon P
|
2019 |
| 7 |
Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III). ( 31046785
)
|
Muschol NM...Breyer SR
|
2019 |
| 8 |
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542
)
|
Guo N...Simonaro CM
|
2019 |
| 9 |
Medically uncontrolled intraocular pressure in mucopolysaccharidosis type VI. ( 29971925
)
|
Hoang TT...Burgess JD
|
2019 |
| 10 |
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics. ( 30669586
)
|
Tebani A...Bekri S
|
2019 |
| 11 |
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review. ( 30740728
)
|
Gomes DF...da Silva EN
|
2019 |
| 12 |
Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein. ( 30907009
)
|
Soe K...Hemsley KM
|
2019 |
| 13 |
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI. ( 30982216
)
|
Jafaryazdi R...Teimourian S
|
2019 |
| 14 |
Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl. ( 31046699
)
|
Semyachkina AN...Melnikova NV
|
2019 |
| 15 |
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. ( 30658664
)
|
Kuiper GA...Wijburg FA
|
2019 |
| 16 |
An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States. ( 30777108
)
|
Conner T...Rangel-Miller V
|
2019 |
| 17 |
Generation of a human induced pluripotent stem cell line, BRCi001-A, derived from a patient with mucopolysaccharidosis type I. ( 30849633
)
|
Suga M...Inoue H
|
2019 |
| 18 |
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I. ( 30976609
)
|
Ghosh A...Bigger BW
|
2019 |
| 19 |
Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I. ( 30979856
)
|
King KE...Shapiro EG
|
2019 |
| 20 |
Limited Data to Evaluate Real-World Effectiveness of Enzyme Replacement Therapy for Mucopolysaccharidosis type I. ( 31020996
)
|
Kuiper G...Bosch AM
|
2019 |
| 21 |
Variability in the ocular phenotype in mucopolysaccharidosis. ( 30120129
)
|
Sornalingam K...Ashworth J
|
2019 |
| 22 |
Spine challenges in mucopolysaccharidosis. ( 30218179
)
|
Crostelli M...Iorio C
|
2019 |
| 23 |
Recent trends in mucopolysaccharidosis research. ( 30451936
)
|
Kobayashi H
|
2019 |
| 24 |
Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families. ( 30458289
)
|
Xie J...Guo Y
|
2019 |
| 25 |
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. ( 30639582
)
|
Zhang W...Huang Y
|
2019 |
| 26 |
The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis. ( 30646511
)
|
Moskot M...Gabig-Cimi?ska M
|
2019 |
| 27 |
Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases. ( 30660225
)
|
Remondino RG...Piantoni L
|
2019 |
| 28 |
Cardiac disease in mucopolysaccharidosis type III. ( 30671988
)
|
Nijmeijer SCM...Kuipers IM
|
2019 |
| 29 |
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion. ( 30740618
)
|
Guffon N...Chevallier B
|
2019 |
| 30 |
Biomarkers in patients with mucopolysaccharidosis type II and IV. ( 30775257
)
|
Fujitsuka H...Tomatsu S
|
2019 |
| 31 |
Oxidative stress assessment by glutathione peroxidase activity and glutathione levels in response to selenium supplementation in patients with Mucopolysaccharidosis I, II and VI. ( 30776046
)
|
Oliveira-Silva JA...D'Almeida V
|
2019 |
| 32 |
Generation of an induced pluripotent stem cell line (TRNDi005-A) from a Mucopolysaccharidosis Type IVA (MPS IVA) patient carrying compound heterozygous p.R61W and p.WT405del mutations in the GALNS gene. ( 30797135
)
|
Li R...Zheng W
|
2019 |
| 33 |
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. ( 30809705
)
|
Zanetti A...Tomanin R
|
2019 |
| 34 |
Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. ( 30834539
)
|
Harmatz PR...Sisic Z
|
2019 |
| 35 |
Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. ( 30848434
)
|
McCafferty EH...Scott LJ
|
2019 |
| 36 |
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. ( 30851722
)
|
Soylu Ustkoyuncu P...Altuner Torun Y
|
2019 |
| 37 |
Visual loss post Ross procedure in an adolescent with newly diagnosed Mucopolysaccharidosis Type II. ( 30953652
)
|
Curran L...Franklin RC
|
2019 |
| 38 |
Characterization of Human Recombinant N-Acetylgalactosamine-6-Sulfate Sulfatase Produced in Pichia pastoris as Potential Enzyme for Mucopolysaccharidosis IVA Treatment. ( 30959056
)
|
Rodr?guez-L?pez A...Alm?ciga-D?az CJ
|
2019 |
| 39 |
Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype. ( 30980944
)
|
T?ys?z B...Uyguner ZO
|
2019 |
| 40 |
Mucopolysaccharidosis: A case report highlighting hematological aspects of the disease. ( 30983812
)
|
Jain R...Kapoor N
|
2019 |
| 41 |
Correction to: Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. ( 30993593
)
|
McCafferty EH...Scott LJ
|
2019 |
| 42 |
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI. ( 31009684
)
|
Aminzadeh M...Ghandil P
|
2019 |
| 43 |
An improved AAV vector for neurological correction of the mouse model of Mucopolysaccharidosis IIIA. ( 31020862
)
|
Gray AL...Bigger B
|
2019 |
| 44 |
Calnexin promotes the folding of mutant iduronate 2-sulfatase related to mucopolysaccharidosis type II. ( 31029429
)
|
Osaki Y...Saito A
|
2019 |
| 45 |
Pre-clinical Safety and Efficacy of Lentiviral Vector-Mediated Ex Vivo Stem Cell Gene Therapy for the Treatment of Mucopolysaccharidosis IIIA. ( 31044143
)
|
Ellison SM...Bigger BW
|
2019 |
| 46 |
Induced Pluripotent Stem Cell Derivation and Ex Vivo Gene Correction Using a Mucopolysaccharidosis Type 1 Disease Mouse Model. ( 31065277
)
|
Miki T...Rodriguez NS
|
2019 |
| 47 |
Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm. ( 31082970
)
|
Kandil AI...Chidambaran V
|
2019 |
| 48 |
Targeted enzyme delivery systems in lysosomal disorders: an innovative form of therapy for mucopolysaccharidosis. ( 31101939
)
|
Safary A...Rafi MA
|
2019 |
| 49 |
Busulfan, Fludarabine, and Cyclophosphamide (BFC) conditioning allowed stable engraftment after haplo-identical allogeneic stem cell transplantation in children with adrenoleukodystrophy and mucopolysaccharidosis. ( 29725109
)
|
Chen Y...Huang XJ
|
2018 |
| 50 |
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. ( 30083803
)
|
Oussoren E...Langeveld M
|
2018 |
Rare neurological diseases
