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Journal of Inherited Metabolic Disease|February 7, 2019
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics eraRonald J A Wanders, Frederic M Vaz, Sacha Ferdinandusse, et al.Human Molecular Genetics|September 24, 2004
L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1Meral Topçu, Florence Jobard, Sophie Halliez, et al.European Journal of Human Genetics : EJHG|June 19, 2009
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR)Janina Hantke, David Chandler, Rosalind King, et al.Journal of the Neurological Sciences|August 30, 2011
Sjögren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohortCatherine Sarret, Mélanie Rigal, Catherine Vaurs-Barrière, et al.Plos One|May 11, 2016
Impaired Bile Acid Homeostasis in Children with Severe Acute MalnutritionLing Zhang, Wieger Voskuijl, Marialena Mouzaki, et al.Reviews in Endocrine & Metabolic Disorders|June 22, 2018
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttleSuzan J G Knottnerus, Jeannette C Bleeker, Rob C I Wüst, et al.Journal of Applied Genetics|October 20, 2019
Mild Zellweger syndrome due to functionally confirmed novel PEX1 variantsPatryk Lipiński, Piotr Stawiński, Małgorzata Rydzanicz, et al.Journal of Lipid Research|October 18, 2003
Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3aTobias B Dansen, Geert J P L Kops, Simone Denis, et al.Biochimica Et Biophysica Acta|March 15, 2013
Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolismSara Violante, Lodewijk Ijlst, Jos Ruiter, et al.Orphanet Journal of Rare Diseases|July 11, 2013
An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of lifeSandra D K Kingma, Eveline J Langereis, Clasine M de Klerk, et al.Pageof 48