Author:
van Eunen Karen,Volker-Touw Catharina M. L.,Gerding Albert,Bleeker Aycha,Wolters Justina C.,van Rijt Willemijn J.,Martines Anne-Claire M. F.,Niezen-Koning Klary E.,Heiner Rebecca M.,Permentier Hjalmar,Groen Albert K.,Reijngoud Dirk-Jan,Derks Terry G. J.,Bakker Barbara M.
Funder
Rosalind Franklin Fellowship from the University of Groningen
NWO grant (Centers for Systems Biology Research)
Top Institute for Food and Nutrition
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Developmental Biology,Plant Science,General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology,Physiology,Ecology, Evolution, Behavior and Systematics,Structural Biology,Biotechnology
Reference48 articles.
1. Roe CR, Ding J. Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Sly WS, Childs B, Beaudet AL, Valle D, Kinzler KW, Bert Vogelstein B, editors. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001. p. 2297–2326.
2. Bastin J. Regulation of mitochondrial fatty acid β-oxidation in human: what can we learn from inborn fatty acid β-oxidation deficiencies? Biochimie. 2014;96:113–20.
3. Derks TGJ, Reijngoud D-J, Waterham HR, Gerver W-JM, van den Berg MP, Sauer PJJ, et al. The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. J Pediatr. 2006;148:665–70.
4. Schatz UA, Ensenauer R. The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population. J Inherit Metab Dis. 2010;33:513–20.
5. Touw CML, Smit GPA, de Vries M, de Klerk JBC, Bosch AM, Visser G, et al. Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. Orphanet J Rare Dis. 2012;7:30.
Cited by
24 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献