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Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.

T Kamijo, … , A Komiyama, T Hashimoto

T Kamijo, … , A Komiyama, T Hashimoto

Published April 1, 1994
Citation Information: J Clin Invest. 1994;93(4):1740-1747. https://doi.org/10.1172/JCI117158.

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Citations to this article (74)

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Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients Odendaal C, Jager EA, Martines AC, Vieira-Lara MA, Huijkman NC, Kiyuna LA, Gerding A, Wolters JC, Heiner-Fokkema R, van Eunen K, Derks TG, Bakker BM	BMC Biology	2023
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Human Trifunctional Protein Alpha Links Cardiolipin Remodeling to Beta-Oxidation WA Taylor, EM Mejia, RW Mitchell, PC Choy, GC Sparagna, GM Hatch, C Beh	PloS one	2012
Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. Joost K, Ounap K, Zordania R, Uudelepp ML, Olsen RK, Kall K, Kilk K, Soomets U, Kahre T	JIMD reports	2011
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Acute fatty liver of pregnancy: An update on pathogenesis and clinical implications JA Ibdah	World journal of gastroenterology : WJG	2006
Acute fatty liver of pregnancy: an update on pathogenesis and clinical implications. Ibdah JA	World Journal of Gastroenterology	2006
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Fatal Hepatic Short-Chain l-3-Hydroxyacyl-Coenzyme a Dehydrogenase Deficiency: Clinical, Biochemical, and Pathological Studies on Three Subjects with This Recently Identified Disorder of Mitochondrial β-Oxidation MJ Bennett, SD Spotswood, KF Ross, S Comfort, R Koonce, RL Boriack, L Ijlst, RJ Wanders	Pediatric and Developmental Pathology	1999
Peroxisomal beta-oxidation enzymes T Hashimoto	Neurochemical Research	1999
Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation JA Ibdah, I Tein, C Dionisi-Vici, MJ Bennett, L IJlst, B Gibson, RJ Wanders, AW Strauss	Journal of Clinical Investigation	1998
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Medium Chain 3-Ketoacyl-Coenzyme A Thiolase Deficiency: A New Disorder of Mitochondrial Fatty Acid β-Oxidation T Kamijo, Y Indo, M Souri, T Aoyama, T Hara, S Yamamoto, S Ushikubo, P Rinaldo, I Matsuda, A Komiyama, T Hashimoto	Pediatric Research	1997
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Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients M Souri, T Aoyama, K Orii, S Yamaguchi, T Hashimoto	The American Journal of Human Genetics	1996
Immunotitration Analysis of Cytosolic Acetoacetyl-Coenzyme A Thiolase Activity in Human Fibroblasts T Fukao, XQ Song, S Yamaguchi, T Hashimoto, T Orii, N Kondo	Pediatric Research	1996
Hypoparathyroidism in mitochondrial trifunctional protein deficiency C Dionisi-Vici, B Garavaglia, AB Burlina, E Bertini, I Saponara, G Sabetta, F Taroni	The Journal of Pediatrics	1996
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency R Pons, M Roig, E Riudor, A Ribes, P Briones, L Ortigosa, A Baldellou, J Gil-Gibernau, M Olesti, C Navarro, RJ Wanders	Pediatric Neurology	1996
Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency JC Brackett, HF Sims, P Rinaldo, S Shapiro, CK Powell, MJ Bennett, AW Strauss	Journal of Clinical Investigation	1995
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients T Aoyama, M Souri, S Ushikubo, T Kamijo, S Yamaguchi, RI Kelley, WJ Rhead, K Uetake, K Tanaka, T Hashimoto	Journal of Clinical Investigation	1995
Disorders of mitochondrial long-chain fatty acid oxidation RJ Pollitt	Journal of Inherited Metabolic Disease	1995
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients T Aoyama, M Souri, S Ushikubo, T Kamijo, S Yamaguchi, RI Kelley, WJ Rhead, K Uetake, K Tanaka, T Hashimoto	Journal of Clinical Investigation	1995
The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy HF Sims, JC Brackett, CK Powell, WR Treem, DE Hale, MJ Bennett, B Gibson, S Shapiro, AW Strauss	Proceedings of the National Academy of Sciences	1995
Primary and Secondary Carnitine Deficiency Syndromes R Pons, DC de Vivo	Journal of child neurology	1995
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency L Hagenfeldt, N Venizelos, U von Döbeln	Journal of Inherited Metabolic Disease	1995

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