Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Molecular Genetics and Metabolism

Volumn 98, Issue 4, 2009, Pages 372-377

  Purevsuren, Jamiyan ^a   Fukao, Toshiyuki ^b   Hasegawa, Yuki ^a   Kobayashi, Hironori ^a   Li, Hong ^a   Mushimoto, Yuichi ^a   Fukuda, Seiji ^a   Yamaguchi, Seiji ^a  

^a SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^b GIFU UNIVERSITY   (Japan)

Author keywords

Fatty acid oxidation; Genotype phenotype correlation; Mitochondrial trifunctional protein; Mutation; Transient expression analysis

Indexed keywords

ACYLCARNITINE; ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; COMPLEMENTARY DNA; CREATINE KINASE; LACTATE DEHYDROGENASE; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN BETA SUBUNIT; PROTEIN SUBUNIT; THYROTROPIN; UNCLASSIFIED DRUG;

ADOLESCENT; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONVULSION; CREATINE KINASE BLOOD LEVEL; CYANOSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSPNEA; ELECTROSPRAY MASS SPECTROMETRY; ENZYME ACTIVITY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC TRANSFECTION; HEART ARREST; HEART FAILURE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERAMMONEMIA; HYPOGLYCEMIA; INCUBATION TEMPERATURE; JAPANESE; KIDNEY FAILURE; LACTATE DEHYDROGENASE BLOOD LEVEL; LACTIC ACIDEMIA; LEG PAIN; LETHARGY; LIPID STORAGE; LIVER DYSFUNCTION; MALE; MENTAL DEFICIENCY; METABOLIC ACIDOSIS; MISSENSE MUTATION; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MOTOR DYSFUNCTION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MYALGIA; NEWBORN; PRIORITY JOURNAL; RECURRENT DISEASE; RESPIRATORY FAILURE; RHABDOMYOLYSIS; THYROTROPIN BLOOD LEVEL; UNCONSCIOUSNESS; UPPER RESPIRATORY TRACT INFECTION; WEAKNESS; WILD TYPE;

ACETYL-COA C-ACYLTRANSFERASE; ADOLESCENT; ASIAN CONTINENTAL ANCESTRY GROUP; BLOTTING, WESTERN; CELL EXTRACTS; DNA, COMPLEMENTARY; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MULTIENZYME COMPLEXES; MUTANT PROTEINS; MUTATION; TRANSFECTION;

EID: 70350621065     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.07.011     Document Type: Article

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