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Journal of Human Genetics, ISSN 1434-5161, 09/2017, Volume 62, Issue 9, pp. 809 - 814
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, p. e0158290
Journal Article
Brain & Development, ISSN 0387-7604, 2016, Volume 39, Issue 1, pp. 48 - 57
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 3, pp. 293 - 301
Journal Article
Analytical and Bioanalytical Chemistry, ISSN 1618-2642, 2/2013, Volume 405, Issue 4, pp. 1345 - 1351
Mitochondrial fatty acid oxidation (FAO) disorders are caused by defects in one of the FAO enzymes that regulates cellular uptake of fatty acids and free... 
Biochemistry, general | Fatty acid oxidation | Chemistry | Analytical Chemistry | Food Science | Carnitine cycle disorder | Characterization and Evaluation of Materials | ESI-MS/MS | Laboratory Medicine | Acylcarnitine profile | Environmental Monitoring/Analysis | CELLS | DIAGNOSIS | CHEMISTRY, ANALYTICAL | BIOCHEMICAL RESEARCH METHODS | MUSCLE | DISORDERS | PALMITIC ACID | TANDEM MASS-SPECTROMETRY | FATTY-ACID OXIDATION | HUMAN SKIN FIBROBLASTS | DIFFERENTIATION | OCTN2 | Fibroblasts - enzymology | Hyperammonemia - metabolism | Hypoglycemia - enzymology | Muscular Diseases - enzymology | Humans | Carnitine - metabolism | Cardiomyopathies - enzymology | Lipid Metabolism, Inborn Errors - enzymology | Biological Transport | Carnitine - deficiency | Carnitine O-Palmitoyltransferase - metabolism | Cardiomyopathies - diagnosis | Hyperammonemia - enzymology | Carnitine - analogs & derivatives | Carnitine O-Palmitoyltransferase - deficiency | Fatty Acids - metabolism | Tandem Mass Spectrometry - methods | Fibroblasts - chemistry | Fibroblasts - metabolism | Hyperammonemia - diagnosis | Hypoglycemia - diagnosis | Carnitine - analysis | Lipid Metabolism, Inborn Errors - metabolism | Oxidation-Reduction | Muscular Diseases - metabolism | Lipid Metabolism, Inborn Errors - diagnosis | Cells, Cultured | Carnitine Acyltransferases - deficiency | Mitochondria - metabolism | Hypoglycemia - metabolism | Muscular Diseases - diagnosis | Spectrometry, Mass, Electrospray Ionization - methods | Cardiomyopathies - metabolism | Physiological aspects | Biological assay | Health aspects | Fatty acids | Methods | Carnitine | PCD | Enzymes | Disorders | Initial value problems | In vitro testing | Assaying
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2014, Volume 164, Issue 5, p. 1180
  Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four [alpha]- and four [beta]-subunits that catalyzes the final three steps of... 
Genetic aspects | Polyneuropathies | Parathyroid hormone | Fatty acids | Analysis | Hypoparathyroidism
Journal Article
Journal of Chromatography B, ISSN 1570-0232, 2007, Volume 855, Issue 1, pp. 80 - 87
Journal Article
Journal of Oncology, ISSN 1687-8450, 2011, Volume 2011, pp. 946936 - 14
ITD-Flt3 mutations are detected in leukemia stem cells (LSCs) in acute myeloid leukemia (AML) patients. While antagonizing Survivin normalizes ITD-Flt3-induced... 
Journal Article
Journal Article
Journal Article