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
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Krabbe Disease in the Australian Working Kelpie
TL;DR: The recent diagnosis of Krabbe disease in the Australian Working Kelpie provides a new opportunity for genetic and pathological studies to further characterise Krab be disease.
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An apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays
TL;DR: This study highlights a current clinical limitation of SNP arrays, i.e., distinguishing deleterious genomic alterations from misleading functional polymorphisms, and concludes that novel findings from SNP arrays should be clinically validated and published.
Implication of genetic factors in neural tube defects etiology
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