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
Reads0
Chats0
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
More filters
Journal ArticleDOI
Vitamin B12 deficiency and phenylketonuria
John H. Walter,John H. Walter +1 more
TL;DR: The literature regarding the vitamin B(12) status of patients with phenylketonuria was reviewed and it was recommended that plasma total homocysteine and plasma or urinary methylmalonate should be routinely measured, as they are more sensitive markers of deficiency than serum B( 12) concentrations.
Journal ArticleDOI
Long-term betaine therapy in a murine model of cystathionine beta-synthase deficient homocystinuria: decreased efficacy over time reveals a significant threshold effect between elevated homocysteine and thrombotic risk.
TL;DR: The findings are consistent with a relatively sharp threshold effect between severely elevated plasma homocysteine and thrombotic risk in HCU and indicate that the HO mouse model can serve as a useful tool for both testing novel treatment strategies and examining the optimal timing and dosing of betaine treatment with a view toward optimizing clinical outcome.
Journal ArticleDOI
Fast clinical molecular diagnosis of hyperphenylalaninemia using next-generation sequencing-based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing.
TL;DR: A comprehensive assay based on a custom AmpliSeq™ panel and Ion Torrent PGM sequencing has wider coverage, higher throughput, is much faster, and more efficient when compared with the traditional molecular detection method for HPA patients, which could meet the medical need for individualized diagnosis and treatment.
Journal ArticleDOI
A scoping review and proposed workflow for multi-omic rare disease research
Katie Kerr,Helen McAneney,Laura Smyth,Caitlin Bailie,Shane McKee,Amy Jayne McKnight,Amy Jayne McKnight +6 more
TL;DR: This scoping review emphasises the value of multi-omic analysis for rare disease research in several ways compared to single omic analysis, ranging from the provision of a diagnosis, identification of prognostic biomarkers, distinct molecular subtypes (particularly for rare cancers), and identification of novel therapeutic targets.
Journal ArticleDOI
Next generation sequencing in endocrine practice
Gregory P. Forlenza,Amy R. U. L. Calhoun,Kenny B Beckman,Tanya Halvorsen,Elwaseila Hamdoun,Heather Zierhut,Kyriakie Sarafoglou,Lynda E. Polgreen,Bradley S. Miller,Brandon M. Nathan,Anna Petryk +10 more
TL;DR: The goal of this review is to provide clinicians with a guide to the application of NGS to genetic testing for endocrine conditions, by compiling a list of established gene mutations detectable by NGS, and highlighting key phenotypic features of these disorders.
References
More filters
Journal ArticleDOI
A simple method for the isolation and purification of total lipides from animal tissues.
TL;DR: In this paper, the authors described a simplified version of the method and reported the results of a study of its application to different tissues, including the efficiency of the washing procedure in terms of the removal from tissue lipides of some non-lipide substances of special biochemical interest.
Book
The Metabolic and Molecular Bases of Inherited Disease
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.
Journal ArticleDOI
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.
Journal ArticleDOI
Prevalence of lysosomal storage disorders.
TL;DR: There was no significant increase in the rate of either clinical diagnoses or prenatal diagnoses of lysosomal storage disorders during the study period, and as a group, they are relatively common and represent an important health problem in Australia.
Journal ArticleDOI
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.
Related Papers (5)
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