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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Genetic contribution to C-reactive protein levels in severe obesity
Geneviève Faucher,Frédéric Guénard,Luigi Bouchard,Véronique Garneau,Valérie Turcot,Alain Houde,André Tchernof,Jean Bergeron,Yves Deshaies,Frédéric-Simon Hould,Stéfane Lebel,Picard Marceau,Marie-Claude Vohl +12 more
TL;DR: The IFI30 rs11554159 polymorphism could partially explain the inter-individual variability observed in the inflammatory profile associated with obesity.
Journal ArticleDOI
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
TL;DR: The data provide the basis for further genotype-phenotype correlation studies in these patients, which will be beneficial for early diagnosis and in directing the approach to clinical intervention.
Journal ArticleDOI
Identification of lncRNA MEG3 Binding Protein Using MS2-Tagged RNA Affinity Purification and Mass Spectrometry
Shanshan Liu,Juanjuan Zhu,Taifeng Jiang,Yiran Zhong,Tie Yi,Yongge Wu,Xiaofei Zheng,Ying-Hua Jin,Hanjiang Fu +8 more
TL;DR: Findings indicate that the newly developed method can effectively enrich lncRNA binding proteins and provides a strong basis for studying MEG3 functions.
Journal ArticleDOI
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities.
TL;DR: In this paper, the authors examined all diagnosed cases of MPS from 1995 to 2015 in the US using the National MPS Society database records Data included year of birth, patient geographic location, and MPS variant type US population information was obtained from the National Center for Health Statistics The incidence and prevalence rates were calculated for each disease Incidence rates for each state.
Journal ArticleDOI
Response monitoring in children with phenylketonuria.
Gabriel C. Araujo,Shawn E. Christ,Robert D. Steiner,Dorothy K. Grange,Binyam Nardos,Robert C. McKinstry,Desirée A. White +6 more
TL;DR: The authors examined posterror reaction time (RT) in 24 children with well-controlled, early treated PKU and 25 typically developing control children using a go/no-go task and showed that RTs of both controls and children with PKU slowed significantly following the commission of errors.
References
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