000 01088 a2200313 4500
005 20250513144027.0
264 0 _c19980729
008 199807s 0 0 fre d
022 _a0001-4079
040 _aNLM
_beng
_cNLM
100 1 _aKamoun, P
245 0 0 _a[A new inherited metabolic disease: delta1-pyrroline 5-carboxylate synthetase deficiency].
_h[electronic resource]
260 _bBulletin de l'Academie nationale de medecine
_c1998
300 _a131-7; discussion 138-9 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _a1-Pyrroline-5-Carboxylate Dehydrogenase
650 0 4 _aChild
650 0 4 _aChild, Preschool
650 0 4 _aCloning, Molecular
650 0 4 _aHumans
650 0 4 _aInfant, Newborn
650 0 4 _aMale
650 0 4 _aMetabolic Diseases
_xdiagnosis
650 0 4 _aMutation
650 0 4 _aOxidoreductases Acting on CH-NH Group Donors
_xdeficiency
700 1 _aAral, B
700 1 _aSaudubray, J M
773 0 _tBulletin de l'Academie nationale de medecine
_gvol. 182
_gno. 1
_gp. 131-7; discussion 138-9
999 _c9589340
_d9589340