Inborn errors of metabolism in adults;Les maladies héréditaires du métabolisme à l'âge adulte

Annales d'Endocrinologie

Volumn 70, Issue 1, 2009, Pages 14-24

  Saudubray, J M ^a   Sedel, F ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Adult; Genetic diseases; Inborn errors of metabolism

Indexed keywords

ANTIOXIDANT; ARGININE; ASCORBIC ACID; BENZOIC ACID; BICARBONATE; BIOTIN; CARNITINE; CITRULLINE; CREATININE; CYANOCOBALAMIN; FOLIC ACID; GALACTOSE; GLUCOSE; MENADIONE; ORNITHINE; PENICILLAMINE; PYRIDOXINE; PYRUVATE OXIDASE; RIBOFLAVIN; THIAMINE; TYROSINE; UBIDECARENONE;

ACIDURIA; CHOLESTEROL SYNTHESIS; CITRIC ACID CYCLE; CLINICAL FEATURE; CYTOPLASM; DIET; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMERGENCY; ENZYME REPLACEMENT; FAILURE TO THRIVE; GLUCOGENESIS; GLUCOSE INTOLERANCE; GLYCOGEN SYNTHESIS; GLYCOLYSIS; GLYCOSYLATION; GROUPS BY AGE; HUMAN; INBORN ERROR OF METABOLISM; INTOXICATION; LYSOSOME; MITOCHONDRIAL ENERGY TRANSFER; NEWBORN PERIOD; PENTOSE PHOSPHATE CYCLE; PHYSICIAN; PORPHYRIA; RESPIRATORY CHAIN; REVIEW; VITAMIN SUPPLEMENTATION;

ADULT; AGE OF ONSET; BRAIN DISEASES, METABOLIC, INBORN; CHILD; HUMANS; INFANT, NEWBORN; METABOLISM, INBORN ERRORS;

EID: 61449182494     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ando.2008.12.004     Document Type: Review

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