Intrauterine cardiomyopathy and cardiac mitochondrial proliferation in mitochondrial trifunctional protein (TFP) deficiency

Molecular Genetics and Metabolism

Volumn 94, Issue 4, 2008, Pages 428-430

  Spiekerkoetter, Ute ^a   Mueller, Martina ^a   Cloppenburg, Eva ^b   Motz, Reinald ^b   Mayatepek, Ertan ^a   Bueltmann, Burkhard ^c   Korenke, Christoph ^b  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^b Children's Hospital   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Cardiac mitochondrial proliferation; Fatty acid oxidation; Intrauterine cardiomyopathy; LCHAD; Mitochondrial trifunctional protein; MTP; TFP

Indexed keywords

ANAMNESIS; ARTICLE; AUTOPSY; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ELECTRON MICROSCOPY; FETUS; HEART FUNCTION; HUMAN; HUMAN TISSUE; HYPERTROPHY; LABORATORY TEST; LIVER HISTOLOGY; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY; MUTATIONAL ANALYSIS; NEWBORN SCREENING; PRENATAL DEVELOPMENT; PRIORITY JOURNAL; PROTEIN DEFICIENCY; STEATOSIS;

CARDIOMYOPATHIES; CELL PROLIFERATION; CODON, NONSENSE; CONSANGUINITY; FATAL OUTCOME; FATTY ACIDS; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS; MITOCHONDRIA; MULTIENZYME COMPLEXES; MUSCLE CELLS; OXIDATION-REDUCTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 46749127697     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.04.002     Document Type: Article

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