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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Angelman syndrome and isovaleric acidemia: What is the link?
Alix Lambrecht,Samia Pichard,Hélène Maurey,Nuria Garcia Segarra,Séverine Drunat,Cécile Acquaviva-Bourdain,Sandrine Passemard,Jean-François Benoist,Anne-Laure Fauret-Amsellem,Manuel Schiff +9 more
TL;DR: It is reported that paternal UPD 15 can rarely lead to co-occurrence of Angelman syndrome and potentially treatable inborn errors of metabolism and in the authors' patient however, the variant identified likely causes asymptomatic organic aciduria.
Facultat de medicina i odontología
TL;DR: Criteris Valoració (Puntuació màxima de cada criteri) Comentaris (Detall sobre la valoración dada, si escau)
Journal ArticleDOI
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
Yann-Jinn Lee,Yann-Jinn Lee,Li-Ping Tsai,Dau-Ming Niu,Dau-Ming Niu,San-Ging Shu,Mei-Chyn Chao,Hsien-Hsiung Lee +7 more
TL;DR: The evidence indicates that the haplotype of single-base substitutions of either the IVS2+1G>A or R316X mutation came from the same allele rather than a mutational hot spot, suggesting that the gene founder effect has occurred in the Taiwanese population.
Dissertation
Bioinformatic screening for candidate mutations underlying phenotypic traits in domestic animals
TL;DR: This thesis evaluated the candidate mutations in domesticated animals from NGS and SNP genotype data using bioinformatic analysis, developed a tool DevRO (using deviant read paired orientation) for detection of large structural variants for NGS data from paired-end sequencing or mate pair and highlighted some opportunities and pitfalls of whole genome resequencing using the Ion Proton platform.
Journal ArticleDOI
Mucopolysaccharidoses and the blood–brain barrier
TL;DR: In this article , the authors discuss the transport mechanisms for the delivery of lysosomal enzymes across the blood-brain barrier (BBB), and discuss the several therapeutic approaches, both preclinical and clinical, for the treatment of mucopolysaccharidoses.
References
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TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
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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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Journal ArticleDOI
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
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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