| 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 |
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. ( 29654542
)
|
Guo N...Simonaro CM
|
2019 |
| 4 |
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII. ( 30653816
)
|
Kantaputra PN...Tanpaiboon P
|
2019 |
| 5 |
Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics. ( 30669586
)
|
Tebani A...Bekri S
|
2019 |
| 6 |
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review. ( 30740728
)
|
Gomes DF...da Silva EN
|
2019 |
| 7 |
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure. ( 30658664
)
|
Kuiper GA...Wijburg FA
|
2019 |
| 8 |
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 |
| 9 |
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 |
| 10 |
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial. ( 30595526
)
|
Okuyama T...Sato Y
|
2019 |
| 11 |
Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-d-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB. ( 30635159
)
|
Whitley CB...Escolar ML
|
2019 |
| 12 |
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. ( 30639582
)
|
Zhang W...Huang Y
|
2019 |
| 13 |
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 |
| 14 |
Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases. ( 30660225
)
|
Remondino RG...Piantoni L
|
2019 |
| 15 |
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 |
| 16 |
Biomarkers in patients with mucopolysaccharidosis type II and IV. ( 30775257
)
|
Fujitsuka H...Tomatsu S
|
2019 |
| 17 |
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 |
| 18 |
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 |
| 19 |
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. ( 30809705
)
|
Zanetti A...Tomanin R
|
2019 |
| 20 |
Enzyme replacement therapy outcomes across the disease spectrum: findings from the mucopolysaccharidosis VI Clinical Surveillance Program. ( 30834539
)
|
Harmatz PR...Sisic Z
|
2019 |
| 21 |
Vestronidase Alfa: A Review in Mucopolysaccharidosis VII. ( 30848434
)
|
McCafferty EH...Scott LJ
|
2019 |
| 22 |
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. ( 30851722
)
|
Soylu Ustkoyuncu P...Altuner Torun Y
|
2019 |
| 23 |
Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure. ( 30083803
)
|
Oussoren E...Langeveld M
|
2018 |
| 24 |
Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. ( 29671225
)
|
Selvanathan A...Bhattacharya K
|
2018 |
| 25 |
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry. ( 30006231
)
|
Yi F...Gelb MH
|
2018 |
| 26 |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period. ( 30070758
)
|
Lin HY...Lin SP
|
2018 |
| 27 |
Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media. ( 30049674
)
|
Yodoshi T...Hurt TL
|
2018 |
| 28 |
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
|
2018 |
| 29 |
Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS. ( 30064964
)
|
Tanaka N...Yamamoto R
|
2018 |
| 30 |
A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II. ( 29863901
)
|
Pan P...Wu J
|
2018 |
| 31 |
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). ( 29210515
)
|
Ficicioglu C...Parini R
|
2018 |
| 32 |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS). ( 29866148
)
|
Lin HY...Lin SP
|
2018 |
| 33 |
Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy. ( 29468207
)
|
Mack HG...de Jong G
|
2018 |
| 34 |
Mucopolysaccharidosis IIIB (Sanfilippo syndrome B) in a commercial emu (Dromaius novaehollandiae) flock. ( 28911234
)
|
Genger SC...Giger U
|
2018 |
| 35 |
Reduction in Brain Heparan Sulfate with Systemic Administration of an IgG Trojan Horse-Sulfamidase Fusion Protein in the Mucopolysaccharidosis Type IIIA Mouse. ( 29251941
)
|
Boado RJ...Pardridge WM
|
2018 |
| 36 |
Neuronal-specific impairment of heparan sulfate degradation in Drosophila reveals pathogenic mechanisms for Mucopolysaccharidosis type IIIA. ( 29408731
)
|
Webber DL...O'Keefe LV
|
2018 |
| 37 |
A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA. ( 30593151
)
|
Li X...Huang Y
|
2018 |
| 38 |
Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient. ( 29800929
)
|
Dostalova G...Magner M
|
2018 |
| 39 |
Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report. ( 30091163
)
|
Sisinni L...Badell I
|
2018 |
| 40 |
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. ( 30118150
)
|
Tomanin R...Hopwood JJ
|
2018 |
| 41 |
A model of mucopolysaccharidosis type IIIB in pigs. ( 30257828
)
|
Yang Q...Huang L
|
2018 |
| 42 |
Family study of a novel mutation of mucopolysaccharidosis type VI with a severe phenotype and good response to enzymatic replacement therapy: Case report. ( 30335002
)
|
Ley-Martos M...Macher HC
|
2018 |
| 43 |
Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons. ( 30413728
)
|
Bay?-Puxan N...Kremer EJ
|
2018 |
| 44 |
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy. ( 30442200
)
|
Furlan F...Parini R
|
2018 |
| 45 |
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
|
2018 |
| 46 |
Correction to: 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. ( 30515718
)
|
Qi Y...Shi J
|
2018 |
| 47 |
Mutational analysis of ARSB gene in mucopolysaccharidosis type VI: identification of three novel mutations in Iranian patients. ( 30524696
)
|
Malekpour N...Hamzehloie T
|
2018 |
| 48 |
New treatment method for mucopolysaccharidosis type VI by liver transplantation. ( 30548979
)
|
Toyama S...Okuyama T
|
2018 |
| 49 |
Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report. ( 28820625
)
|
Salvucci IDM...Pimentel SLG
|
2018 |
| 50 |
Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome). ( 29527552
)
|
Suzuki K...Takahashi K
|
2018 |
Rare neurological diseases
