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Endogenous production of hydrogen sulfide in mammals
TLDR
Hydrogen sulfide is one of three gases involved in biological functions and synthesized in vivo and seems to act as a neuromodulator: it modulates NMDA glutamate receptor function in the brain and in the heart.
Recognition and management of fatty acid oxidation defects: A series of 107 patients
TLDR
Clinical presentations, methods of recognition and therapeutic management of inherited fatty acid oxidation (FAO) defects, which appear very severe, are described and the long-term prognosis remains uncertain.
Methylenetetrahydrofolate Reductase Polymorphism in the Etiology of Down Syndrome
TLDR
A cohort of 85 women carrying fetuses with Down syndrome is studied and there is no difference in the frequencies of the three groups of subjects between Down syndrome mothers and controls.
Δ1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline
TLDR
The clinical phenotype of the sibs is described in detail and a relative deficiency of urea cycle intermediates during fasting periods results in a paradoxical hyperammonaemia, and the results of ornithine loading tests and indirect enzyme studies corroborating the biological significance of the defect in P5CS in vivo are shown.
Metabolism of citrulline in man
TLDR
This review described these pathways and their regulation in different tissues, trying to explain the physiological and pathological (inherited or acquired) variations in man.
Cystathionine beta-synthase mutations in homocystinuria.
TLDR
The major cause of homocystinuria is mutation of the gene encoding the enzyme cystathionine beta-synthase (CBS), and mutations due to deaminations of methylcytosines represent 53% of all point substitutions in the coding region of the CBS gene.
Cystathionine β‐synthase mutations in homocystinuria
TLDR
Ninety‐two different disease‐associated mutations have been identified in the CBS gene in 310 examined homocystinuric alleles in more than a dozen laboratories around the world, and most of these mutations are missense, and the vast majority of these are private mutations.
Liver transplantation in urea cycle disorders
TLDR
In this last group, despite a significant residual activity due to heterozygote status, even with a variable lyonisation, only seven girls are still mentally and neurologically normal, and three of these seven were liver-transplanted before the constitution of irreversible neurological damage.
Endogenous hydrogen sulfide overproduction in Down syndrome
TLDR
The cystathionine beta synthase (CBS) gene is localized on chromosome 21 (21q22.3) and this overproduction is potentially able to induce some of the clinical signs of Down syndrome such as hypotonia and mental retardation.
Hyperhomocysteinemia, a risk factor for atherosclerosis in chronic uremic patients.
TLDR
Fasting plasma level of total, protein-bound Hcy was significantly higher in 20 patients (16 males) who had past histories of occlusive arterial disease than in the 59 (31 male) who did not (30.9 +/- 19.1 vs. 19.6 +/- 9.7 mumol/liter, P < 0.001); linear regression analysis showed a significant correlation between plasma creatinine and Hcy concentrations.
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