[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].

Kamoun, P

[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency]. [electronic resource] - Bulletin de l'Academie nationale de medecine 1998 - 131-7; discussion 138-9 p. digital

Publication Type: Case Reports; Journal Article

0001-4079


1-Pyrroline-5-Carboxylate Dehydrogenase
Child
Child, Preschool
Cloning, Molecular
Humans
Infant, Newborn
Male
Metabolic Diseases--diagnosis
Mutation
Oxidoreductases Acting on CH-NH Group Donors--deficiency