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.
Journal ArticleDOI
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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Genetic variants of the FADS1 FADS2 gene cluster are associated with altered (n-6) and (n-3) essential fatty acids in plasma and erythrocyte phospholipids in women during pregnancy and in breast milk during lactation.
Lin Xie,Sheila M. Innis +1 more
TL;DR: It is shown that genetic variants of FADS1 and FADS2 influence blood lipid and breast milk essential fatty acids in pregnancy and lactation.
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Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.
Benedicte Christensen,Laura Arbour,Pamela V. Tran,Daniel Leclerc,Nelly Sabbaghian,Robert W. Platt,Brian M. Gilfix,David S. Rosenblatt,Roy A. Gravel,Patricia Forbes,Rima Rozen +10 more
TL;DR: It is proposed that the genetic-nutrient interaction--MTHFR polymorphism and low folate status--is associated with a greater risk for NTDs than either variable alone.
Journal ArticleDOI
FADS genotypes and desaturase activity estimated by the ratio of arachidonic acid to linoleic acid are associated with inflammation and coronary artery disease
Nicola Martinelli,Domenico Girelli,Giovanni Malerba,Patrizia Guarini,Thomas Illig,Elisabetta Trabetti,Marco Sandri,Simonetta Friso,Francesca Pizzolo,Linda Schaeffer,Joachim Heinrich,Pier Franco Pignatti,Roberto Corrocher,Oliviero Olivieri +13 more
TL;DR: In populations following a Western diet, subjects carrying FADS haplotypes that are associated with higher desaturase activity may be prone to a proinflammatory response favoring atherosclerotic vascular damage.
Journal ArticleDOI
Prevalence of lysosomal storage diseases in Portugal.
Rui Pinto,Carla Caseiro,Manuela Lemos,Lurdes Lopes,Augusta Fontes,Helena Ribeiro,Eugénia Pinto,Elisabete Silva,Sónia Rocha,Ana Marcão,Isaura Ribeiro,Lúcia Lacerda,G. Ribeiro,Olga Amaral,M.C. Sá Miranda +14 more
TL;DR: The comparison of the prevalence profile of the LSDs presenting a prevalence higher than 0.5/100 000 in the Portuguese, Dutch and Australian populations showed the existence of a higher prevalence of GM2 gangliosidoses (B variant), mucolipidose (II and III), Niemman-Pick type C and metachromatic leukodystrophy (MLD), and a lower prevalence of Pompe and Fabry.
Journal ArticleDOI
Association of neural tube defects and folic acid food fortification in Canada.
TL;DR: At a population level, folic acid food fortification is associated with a pronounced reduction in open neural tube defects and among 336 963 women who underwent maternal serum screening over 77 months, the prevalence of open Neural tube defects declined.
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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