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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 receptorExpand
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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 andExpand
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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 criticalExpand
  • 126
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Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
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
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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 asExpand
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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 argininosuccinicExpand
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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 groupExpand
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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 inExpand
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aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16.
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 withExpand
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Hyperhomocysteinaemia: a significant risk factor for cardiovascular disease in renal transplant recipients.
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 recipientsExpand
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