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Molecular Genetics and Metabolism|June 3, 2004
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase geneJ T McKinney, N Longo, S H Hahn, et al.Atherosclerosis|August 5, 2000
FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemiaM S Nauck, H Scharnagl, H Nissen, et al.Molecular Genetics and Metabolism|June 6, 2017
Psychosine, a marker of Krabbe phenotype and treatment effectM L Escolar, B T Kiely, E Shawgo, et al.The Journal of Clinical Investigation|June 8, 2001
Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden deathJ A Ibdah, H Paul, Y Zhao, et al.Molecular Genetics and Metabolism|March 24, 2010
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant formsR L Puckett, F Lorey, P Rinaldo, et al.Journal of Inherited Metabolic Disease|October 14, 2000
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiencyJ L Van Hove, S G Kahler, M D Feezor, et al.Human Molecular Genetics|October 9, 2001
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouseK B Cox, D A Hamm, D S Millington, et al.Journal of Inherited Metabolic Disease|February 22, 2000
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disordersJ J Shen, D Matern, D S Millington, et al.European Journal of Pediatrics|December 22, 1999
Liver transplantation for glycogen storage disease types I, III, and IVD Matern, T E Starzl, W Arnaout, et al.Journal of Inherited Metabolic Disease|December 18, 2008
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemiaR Bonilla Guerrero, L A Wolfe, N Payne, et al.Pageof 4