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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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.
Journal ArticleDOI
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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Erythrocyte membrane phospholipid fatty acids, desaturase activity, and dietary fatty acids in relation to risk of type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)–Potsdam Study
Janine Kröger,Vera Zietemann,Cornelia Enzenbach,Cornelia Weikert,Eugene Jansen,Frank Döring,Hans-Georg Joost,Heiner Boeing,Matthias B. Schulze +8 more
TL;DR: The FA profile of erythrocyte membrane phospholipids and activity of desaturase enzymes are strongly linked to the incidence of type 2 diabetes.
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SNPs of the FADS gene cluster are associated with polyunsaturated fatty acids in a cohort of patients with cardiovascular disease.
Giovanni Malerba,Linda Schaeffer,Luciano Xumerle,Norman Klopp,Elisabetta Trabetti,M. Biscuola,Ugo Cavallari,Roberta Galavotti,Nicola Martinelli,Patrizia Guarini,Domenico Girelli,Oliviero Olivieri,Roberto Corrocher,Joachim Heinrich,Pier Franco Pignatti,Thomas Illig +15 more
TL;DR: The observed strong association of FADS gene polymorphisms with the levels of arachidonic acid, which is a precursor of molecules involved in inflammation and immunity processes, suggests that SNPs of the FADS1 and FADS2 gene region are worth studying in diseases related to inflammatory conditions or alterations in the concentration of PUFAs.
Journal ArticleDOI
The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations.
TL;DR: Signs and symptoms that should alert pediatricians to the possibility of MPS types I (Hurler, Hurler-Scheie, Scheie), II (Hunter), and VI (Maroteaux-Lamy) and an overview of treatment options are provided.
Journal ArticleDOI
Comparison of cardiovascular risk profiles among ethnic groups using population health surveys between 1996 and 2007
TL;DR: In this article, the authors conducted a large, population-based comparison of cardiovascular risk among people of white, South Asian, Chinese and black ethnicity living in Ontario, Canada, and examined the age and sex-standardized prevalence of eight cardiovascular risk factors, heart disease and stroke among 154 653 white people, 3364 South Asian people, 3038 Chinese people and 2742 black people.
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Management guidelines for mucopolysaccharidosis VI.
TL;DR: In this article, a comprehensive management guideline for patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) is proposed, based on evidence from randomized, controlled trials, meta-analyses, systematic reviews, and expert opinion.
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