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About 4,122 results

ALLMedicine™ Mucopolysaccharidosis Center

Research & Reviews  2,021 results

Sensory, voluntary, and motor postural control in children and adolescents with mucopol...
https://doi.org/10.1515/jpem-2020-0630
Journal of Pediatric Endocrinology & Metabolism : JPEM; Yigit O, Aksoy S et. al.

Apr 10th, 2021 - This study aimed to investigate automatic and voluntary motor control performances, which have an important function in maintaining balance, in children and adolescents with mucopolysaccharidosis (MPS). The records of 70 patients were retrospectiv...

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A pha...
https://doi.org/10.1016/j.ymthe.2021.03.019
Molecular Therapy : the Journal of the American Society O... Giugliani R, Martins AM et. al.

Mar 30th, 2021 - In Hunter syndrome (mucopolysaccharidosis II [MPS-II]), systemic accumulation of glycosaminoglycans (GAGs) due to a deficiency of iduronate-2-sulfatase (IDS), caused by mutations in the IDS gene, leads to multiple somatic manifestations and in pat...

Hip pathologies in mucopolysaccharidosis type III.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977579
Journal of Orthopaedic Surgery and Research; Breyer SR, Vettorazzi E et. al.

Mar 20th, 2021 - Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. T...

Disentangling molecular and clinical stratification patterns in beta-galactosidase defi...
https://doi.org/10.1136/jmedgenet-2020-107510
Journal of Medical Genetics; Tebani A, Sudrié-Arnaud B et. al.

Mar 19th, 2021 - This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). Clinical and genetic data of 52 pro...

Analysis of long-term observations of the large group of Russian patients with Hunter s...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937197
BMC Medical Genomics; Semyachkina AN, Voskoboeva EY et. al.

Mar 7th, 2021 - This article presents the results of long-term observations and comparative analysis of genotype-phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome, evaluating th...

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Guidelines  4 results

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisc...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223498
Orphanet Journal of Rare Diseases; Scarpa M, Almássy Z et. al.

Nov 8th, 2011 - Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological changes in m...

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170181
Orphanet Journal of Rare Diseases; de Ru MH, Boelens JJ et. al.

Aug 12th, 2011 - Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ dysfunction. Its clinical spectrum is very broad and varies from the severe Hurler phenotyp...

Mucopolysaccharidosis I: management and treatment guidelines.
https://doi.org/10.1542/peds.2008-0416
Pediatrics Muenzer J, Wraith JE et. al.

Jan 1st, 2009 - Disease management for mucopolysaccharidosis type I has been inconsistent because of disease rarity (approximately 1 case per 100,000 live births), phenotypic heterogeneity, and limited therapeutic options. The availability of hematopoietic stem c...

VIMIZIM® (elosulfase alfa) HCP
https://vimizim.com/hcp/

VIMIZIM® (elosulfase alfa) is indicated for patients with Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome).

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Drugs  11 results see all →

Clinicaltrials.gov  2,059 results

Gene Therapy Promising for Rare Syndrome
https://www.medscape.com/viewarticle/949815

Apr 22nd, 2021 - A gene therapy strategy has produced impressive results in patients with Sanfilippo syndrome type A (mucopolysaccharidosis IIIA). Most of the benefit from the treatment came in patients who began treatment at younger age, but comparisons to natura...

Sensory, voluntary, and motor postural control in children and adolescents with mucopol...
https://doi.org/10.1515/jpem-2020-0630
Journal of Pediatric Endocrinology & Metabolism : JPEM; Yigit O, Aksoy S et. al.

Apr 10th, 2021 - This study aimed to investigate automatic and voluntary motor control performances, which have an important function in maintaining balance, in children and adolescents with mucopolysaccharidosis (MPS). The records of 70 patients were retrospectiv...

Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A pha...
https://doi.org/10.1016/j.ymthe.2021.03.019
Molecular Therapy : the Journal of the American Society O... Giugliani R, Martins AM et. al.

Mar 30th, 2021 - In Hunter syndrome (mucopolysaccharidosis II [MPS-II]), systemic accumulation of glycosaminoglycans (GAGs) due to a deficiency of iduronate-2-sulfatase (IDS), caused by mutations in the IDS gene, leads to multiple somatic manifestations and in pat...

Hip pathologies in mucopolysaccharidosis type III.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7977579
Journal of Orthopaedic Surgery and Research; Breyer SR, Vettorazzi E et. al.

Mar 20th, 2021 - Mucopolysaccharidosis type III (MPS III) comprises a group of rare lysosomal storage diseases. Although musculoskeletal symptoms are less pronounced than in other MPS subtypes, pathologies of hip and spine have been reported in MPS III patients. T...

Disentangling molecular and clinical stratification patterns in beta-galactosidase defi...
https://doi.org/10.1136/jmedgenet-2020-107510
Journal of Medical Genetics; Tebani A, Sudrié-Arnaud B et. al.

Mar 19th, 2021 - This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB). Clinical and genetic data of 52 pro...

see more →

News  27 results

Gene Therapy Promising for Rare Syndrome
https://www.medscape.com/viewarticle/949815

Apr 22nd, 2021 - A gene therapy strategy has produced impressive results in patients with Sanfilippo syndrome type A (mucopolysaccharidosis IIIA). Most of the benefit from the treatment came in patients who began treatment at younger age, but comparisons to natura...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
https://reference.medscape.com/viewarticle/936001_3

Sep 17th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...

Pregnancy registries are a valuable resource
https://www.mdedge.com/familymedicine/article/175402/obstetrics/pregnancy-registries-are-valuable-resource/page/0/1
MDedge ObGyn;

Sep 21st, 2018 - The use of galsulfase (Naglazyme) for Maroteaux-Lamy syndrome during pregnancy is under study by the Mucopolysaccharidosis VI (MPS VI), clinical surveillance program (BioMarin Pharmaceutical) (415-506-6849 or 415-506-6703). Multiple sclerosis Nova.

Sly Syndrome Treatment OK'd (FDA)
https://www.medpagetoday.com/genetics/generalgenetics/69325

Nov 15th, 2017 - The FDA approved vestronidase alfa-vjbk (Mepsevii) to treat Sly syndrome, a.k.a. mucopolysaccharidosis type VII or MPS VII, the agency said Wednesday. MPS VII is a lysosomal storage disorder in which beta-glucuronidase is deficient. The novel enzy...

Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Developing Drugs for Treatment Guidance for Industry
http://www.fda.gov/regulatory-information/search-fda-guidance-documents/mucopolysaccharidosis-type-iii-sanfilippo-syndrome-developing-drugs-treatment-guidance-industry

Submit Comments by 04/05/2020 Submit Comments Online Although you can comment on any guidance at any time (see 21 CFR 10.115(g)(5)), to ensure that the FDA considers your comment on a draft guidance before it begins work on the final version of th...

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