Epidemiology of mucopolysaccharidoses
Shaukat Khan,Hira Peracha,Diana Ballhausen,Alfred Wiesbauer,Marianne Rohrbach,Matthias Gautschi,Robert W. Mason,Roberto Giugliani,Yasuyuki Suzuki,Kenji E. Orii,Tadao Orii,Shunji Tomatsu,Shunji Tomatsu,Shunji Tomatsu +13 more
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TLDR
Overall, the frequency of MPS varies for each population due to differences in ethnic backgrounds and/or founder effects that affect the birth prevalence of each type of M PS, as seen for other rare genetic diseases.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2017-07-01 and is currently open access. It has received 996 citations till now. The article focuses on the topics: Population.read more
Citations
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Differences in MPS I and MPS II Disease Manifestations.
TL;DR: In this article, the first step of degradation of heparan sulfate (HS) and DS is blocked by a deficiency in the lysosomal enzyme iduronate 2-sulfatase (IDS), while, in MPS I, blockage of the second step is caused by the deficiency in iduronidase (IDUA).
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Generic Substitution of Orphan Drugs for the Treatment of Rare Diseases: Exploring the Potential Challenges.
TL;DR: An overview of rare disease characteristics, reports of problematic generic substitution, and discusses why generic substitution of orphan drugs may be challenging and should be undertaken carefully in rare disease patients are provided.
Journal ArticleDOI
Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS.
TL;DR: This project devise and validate a multiplex urine filter paper method for GAG analysis using a tandem mass spectrometry (MS/MS) approach to screen newborns for MPSs and presents a rapid and efficient method for populational newborn urine screening using MS/MS, which could also be applied to high-risk screening.
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A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria
TL;DR: Analysis of the mutant FMO3 expressed in bacteria revealed that the R238Q mutation abolished catalytic activity of the enzyme and is thus a causative mutation for TMAuria.
Journal ArticleDOI
Update of treatment for mucopolysaccharidosis type III (sanfilippo syndrome).
TL;DR: These efforts and incentives attract academic institutions and industry to provide potential therapies for MPS III, including enzyme replacement therapies, substrate reduction therapies, gene and cell therapies, and so on, which were discussed in this paper.
References
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Prevention of the First Occurrence of Neural-Tube Defects by Periconceptional Vitamin Supplementation
Andrew E. Czeizel,István Dudás +1 more
TL;DR: A randomized, controlled trial of periconceptional multivitamin supplementation to test the efficacy of this treatment in reducing the incidence of a first occurrence of neural-tube defects.
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Prevalence of lysosomal storage disorders.
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
Sekar Kathiresan,Sekar Kathiresan,Olle Melander,Candace Guiducci,Aarti Surti,Noël P. Burtt,Mark J. Rieder,Gregory M. Cooper,Charlotta Roos,Benjamin F. Voight,Benjamin F. Voight,Aki S. Havulinna,Björn Wahlstrand,Thomas Hedner,Dolores Corella,E. Shyong Tai,Jose M. Ordovas,Göran Berglund,Erkki Vartiainen,Pekka Jousilahti,Bo Hedblad,Marja-Riitta Taskinen,Christopher Newton-Cheh,Christopher Newton-Cheh,Veikko Salomaa,Leena Peltonen,Leif Groop,Leif Groop,David Altshuler,Marju Orho-Melander +29 more
TL;DR: Using genome-wide association data from three studies and targeted replication association analyses in up to 18,554 independent participants, it is shown that common SNPs at 18 loci are reproducibly associated with concentrations of low-density cholesterol, high-density lipoprotein (HDL) cholesterol, and/or triglycerides.
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Prevalence of lysosomal storage disorders.
A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)
Joseph Muenzer,James E. Wraith,Michael Beck,Roberto Giugliani,Paul Harmatz,Christine M. Eng,Ashok Vellodi,Rick A. Martin,Uma Ramaswami,Muge Gucsavas-Calikoglu,Suresh Vijayaraghavan,Susanne Wendt,Ana Cristina Puga,Brian Ulbrich,Marwan Shinawi,Maureen Cleary,Diane Piper,Anne Marie Conway,Alan Kimura +18 more