Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

Molecular Genetics and Metabolism

Volumn 78, Issue 3, 2003, Pages 186-192

  Brivet, M ^a   Garcia Cazorla, A ^b   Lyonnet, S ^b   Dumez, Y ^b   Nassogne, M C ^b   Slama, A ^a   Boutron, A ^a   Touati, G ^b   Legrand, A ^a   Saudubray, J M ^b  

^a BICÊTRE HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Lactic acidosis; Mitochondrial pyruvate carrier; Prenatal diagnosis

Indexed keywords

2 CHLOROPROPIONIC ACID; ACETYLCARNITINE; ALPHA CYANO 4 HYDROXYCINNAMIC ACID; AMMONIA; ARGININE ASPARTATE; BICARBONATE; CARBON DIOXIDE; CARNITINE; CITRIC ACID; DIGITONIN; MALIC ACID; MONOCARBOXYLATE TRANSPORTER; PROPIONIC ACID DERIVATIVE; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; RIBOFLAVIN; THIAMINE; UNCLASSIFIED DRUG;

ARTICLE; ASSAY; BRAIN CYST; CASE REPORT; CELL PERMEABILIZATION; CLINICAL EXAMINATION; CLINICAL FEATURE; CONCENTRATION RESPONSE; CONSANGUINITY; DECARBOXYLATION; DELIVERY; DIFFUSION; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; ENZYME ACTIVITY; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GLUCOSE BLOOD LEVEL; HUMAN; HYPERLACTATEMIA; ISOTOPE LABELING; KETOGENIC DIET; LYMPHOCYTE; METABOLIC ACIDOSIS; MITOCHONDRIAL MEMBRANE; MUSCLE HYPOTONIA; MUTATION; NEWBORN; OXIDATION; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; TREATMENT OUTCOME; TROPHOBLAST;

EID: 12244269954     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00016-7     Document Type: Article

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