Author pages are created from data sourced from our academic publisher partnerships and public sources.
Endogenous production of hydrogen sulfide in mammals
- P. Kamoun
- Chemistry, Medicine
- Amino Acids
- 8 April 2004
Summary.Hydrogen sulfide is one of three gases involved in biological functions and synthesized in vivo. Like NO and CO, it seems to act as a neuromodulator: it modulates NMDA glutamate receptor… Expand
Methylenetetrahydrofolate Reductase Polymorphism in the Etiology of Down Syndrome
A methylenetetrahydrofolate reductase polymorphism (677 C/T mutation) was recently implicated in the etiology of Down syndrome. We studied a cohort of 85 women carrying fetuses with Down syndrome and… Expand
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 synthase.
delta(1)-pyrroline-5-carboxylate synthase (P5CS), a bifunctional ATP- and NADPH-dependent mitochondrial enzyme, catalyzes the reduction of glutamate to delta(1)-pyrroline-5-carboxylate, a critical… Expand
Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
- M. Baumgartner, D. Rabier, +5 authors J. Saudubray
- European Journal of Pediatrics
- 1 January 2005
AbstractΔ1-pyrroline-5-carboxylate synthase (P5CS) catalyses the reduction of glutamate to Δ1-pyrroline-5-carboxylate, a critical step in the biosynthesis of proline, ornithine and arginine.… Expand
Cystathionine beta-synthase mutations in homocystinuria.
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS). Deficiency of CBS activity results in elevated levels of homocysteine as well as… Expand
Liver transplantation in urea cycle disorders
Abstract We report here our experience in the long-term management of 28 patients with citrullinaemia, 13 patients with carbamoyl phosphate synthase deficiency and 15 patients with argininosuccinic… Expand
Clinical outcome and long-term management of 17 patients with propionic acidaemia
A retrospective study was performed on the clinical outcome and long-term treatment of 17 patients with propionic acidaemia diagnosed during the last 20 years in our hospital. The study group… Expand
Hyperhomocysteinemia, a risk factor for atherosclerosis in chronic uremic patients.
Hyperhomocysteinemia has been shown to constitute an independent risk factor for premature occlusive arterial disease (N Engl J Med 324:1149), a frequent complication in chronic uremic patients in… Expand
aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.
- X. Montagutelli, A. Lalouette, M. Coudé, P. Kamoun, M. Forest, J. Guénet
- Biology, Medicine
Alkaptonuria is a human hereditary metabolic disease characterized by a very high urinary excretion of homogentisic acid, an intermediary product in the metabolism of tyrosine, in association with… Expand
Hyperhomocysteinaemia: a significant risk factor for cardiovascular disease in renal transplant recipients.
- Z. Massy, B. Chadefaux-Vekemans, +6 authors H. Kreis
- Nephrology, dialysis, transplantation : official…
Moderate hyperhomocysteinaemia has been shown to constitute an independent risk factor for cardiovascular disease (CVD), a frequent cause of morbidity and mortality in renal transplant recipients… Expand