- Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosisB Aral
Laboratoire de Biochimie Medicale B, CNRS, URA1335, Institut Necker, Hopital des Enfants Malades, Paris, France
Am J Hum Genet 61:1318-26. 1997..3. Molecular investigation of PDX1 deficiency in four patients with neonatal lactic acidemias revealed mutations 78del85 and 965del59 in a homozygous state, and one other patient had no PDX1 mRNA expression...
- Assignment of the human gene encoding the delta 1-pyrroline-5-carboxylate synthetase (P5CS) to 10q24.3 by in situ hybridizationG Liu
Laboratoire de Biochimie Médicale B and Centre National de la Recherche Scientifique CNRS URA 1335, Hopital Necker Enfant Malades, Paris, France
Genomics 37:145-6. 1996
- Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patientsP de Lonlay
Departments of Pediatrics, , Paris, France
Pediatr Res 50:353-7. 2001..No mutation has been found in one patient after sequencing the exons 5-13 of the gene...
- Database cloning human delta 1-pyrroline-5-carboxylate synthetase (P5CS) cDNA: a bifunctional enzyme catalyzing the first 2 steps in proline biosynthesisB Aral
Centre National de la Recherche Scientifique CNRS, Hopital Necker Enfants Malades, Paris, France
C R Acad Sci III 319:171-8. 1996..The phenotypic features for deficiency of P5CS include joint hyperlaxity, skin hyperelasticity, cataract and mental retardation with hyperammonemia and low plasma levels of proline, citrulline and ornithine...
- Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patientsB Aral
Laboratoire de Biochimie Genetique, Centre National de la Recherche Scientifique URA1335 Hôpital Necker Enfants Malades, Paris, France
Hum Mutat 9:81-2. 1997
- Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthaseM R Baumgartner
Department of Pediatrics, McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA
Hum Mol Genet 9:2853-8. 2000..This is the first documented report of an inborn error of P5CS and suggests that this disorder should be considered in the differential diagnosis in patients with neurodegeneration and/or cataracts and connective tissue disease...