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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State of the Science of Endocrine Disrupting Chemicals - 2012
TL;DR: The designations employed and the presentation of the material in this publication do not imply the expression of any opinion whatsoever on the part of UNEP or WHO concerning the legal status of any country, territory, city or area or of its authorities, or concerning the delimitation of its frontiers or boundaries.
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MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
TL;DR: There is no specific consensus approach for treating MELAS syndrome, but unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes.
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Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Marc C. Patterson,Christian J. Hendriksz,Mark Walterfang,Frédéric Sedel,Marie T. Vanier,Frits A. Wijburg +5 more
TL;DR: Points of consensus among experts in the diagnosis and treatment of NP-C are reported based on a follow-up meeting in Paris, France in September 2011, providing further information on detection/diagnostic methods, potential new methods of monitoring disease progression, and therapy.
Journal ArticleDOI
The in-depth evaluation of suspected mitochondrial disease.
Richard H. Haas,Sumit Parikh,Marni J. Falk,Russell P. Saneto,Nicole I. Wolf,Niklas Darin,Lee-Jun C. Wong,Bruce H. Cohen,Robert K. Naviaux +8 more
TL;DR: The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease.
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Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Priya S. Kishnani,Paula Goldenberg,Stephanie L. Dearmey,James H. Heller,Daniel K. Benjamin,Sarah P. Young,Deeksha Bali,Sue Ann Smith,Jennifer S. Li,Hanna Mandel,Dwight D. Koeberl,Amy S. Rosenberg,Yuan-Tsong Chen,Yuan-Tsong Chen +13 more
TL;DR: The effect of CRIM status on outcome appears to be mediated by antibody responses to the exogenous protein, which predicted reduced overall survival and invasive ventilator-free survival and poorer clinical outcomes in infants with Pompe disease treated with rhGAA.
References
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Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene
TL;DR: The patient was found to be homozygous for a single base pair deletion (c1169delA), which will cause a frameshift and premature termination of the protein.
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Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
An C. Jansen,Henian Cao,Paige Kaplan,Kenneth Silver,Gabriel Leonard,Linda De Meirleir,Willy Lissens,Inge Liebaers,Martin Veilleux,Frederick Andermann,Robert A. Hegele,Eva Andermann +11 more
TL;DR: The course of the disease was characteristic of MPS-IIID in all patients, although survival may be longer than was previously reported, and there is no obvious genotype-phenotype correlation.
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Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.
Yuan-Zong Song,Bing-Xiao Li,Hu Hao,Ruo-Lei Xin,Ting Zhang,Chun-Hua Zhang,Keiko Kobayashi,Zi-Neng Wang,Xiao-Ying Zheng +8 more
TL;DR: This metabolome research by UP-GC-MS provides valuable epidemiological information that helps to understand the prevalence and the possible intervention strategy of NTDs and IEMs, especially in Chinese population.
Journal ArticleDOI
A case-control study of maternal nutrition and neural tube defects in Northern Ireland
TL;DR: The findings are consistent with the findings of other research on NTD and the metabolism of folate and vitamin B12 and the need for a clearer focus on nutrition in nursing and midwifery education is highlighted.
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Mucopolysaccharidosis type II in females and response to enzyme replacement therapy.
Agnieszka Jurecka,Zita Krumina,Zbigniew Żuber,Agnieszka Różdżyńska-Świątkowska,Anna Kloska,Barbara Czartoryska,Anna Tylki-Szymańska +6 more
TL;DR: Although genotype–phenotype correlation in MPS II is difficult, gene deletions seem to correlate with more severe clinical manifestation of the disease.
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