A new inherited metabolic disease: Δ1-pyrroline 5-carboxylate synthetase deficiency;Une nouvelle maladie héréditaire du métabolisme: Le déficit en Δ1-pyrroline 5-carboxylate synthétase

Bulletin de l'Academie Nationale de Medecine

Volumn 182, Issue 1, 1998, Pages 131-137

  Kamoun, Pierre ^a   Aral, Bernard ^a   Saudubray, Jean Marie ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Amine oxidoreductases; Ammonia, blood; Delta 1 pyrroline 5 carboxylase; Metabolic diseases; Proline, biosynthesis

Indexed keywords

ALDH4A1 PROTEIN, HUMAN; OXIDOREDUCTASE; PYRROLINE 5 CARBOXYLATE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILD; ENZYMOLOGY; GENETICS; HUMAN; MALE; METABOLIC DISORDER; MOLECULAR CLONING; MUTATION; NEWBORN; PRESCHOOL CHILD;

1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; HUMANS; INFANT, NEWBORN; MALE; METABOLIC DISEASES; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 0031609943     PISSN: 00014079     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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