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Hyperinsulinism–hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype–phenotype correlations
Background Activating mutations in the GLUD1 gene (which encodes for the intra-mitochondrial enzyme glutamate dehydrogenase, GDH) cause the hyperinsulinism–hyperammonaemia (HI/HA) syndrome. PatientsExpand
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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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Sustained reduction of hyperhomocysteinaemia with folic acid supplementation in predialysis patients.
BACKGROUND Moderate hyperhomocysteinaemia, as occurs in chronic renal failure patients, is an established independent risk factor for atherosclerotic arterial occlusive accidents, the incidence ofExpand
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Mosaic tetrasomy 12p
Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler‐Nicola/Killian syndrome and has sometimes been incorrectly interpretedExpand
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Elevated total plasma homocysteine, a risk factor for thrombosis. Relation to coagulation and fibrinolytic parameters.
Homocystinuria is a rare inherited metabolic disease. Arterial and venous thromboembolic events represent frequent and life-threatening complications in homocystinuric patients. It has been suggestedExpand
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Increased plasma homocysteine concentration in patients with chronic renal failure.
Since moderate hyperhomocysteinemia is associated with premature occlusive arterial disease, a frequent complication in uremic patients, we prospectively determined fasting plasma concentration ofExpand
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Modified glutamine catabolism in macrophages of Ucp2 knock-out mice.
Uncoupling protein 2 (UCP2) belongs to a family of transporters of the mitochondrial inner membrane and is reported to uncouple respiration from ATP synthesis. Our observation that the amino acidExpand
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Methylenetetrahydrofolate reductase deficiency: Prenatal diagnosis and family studies
Prenatal diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency and family studies were performed because of a severely affected first child in this family. The fetus at risk was foundExpand
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Salivary homocyst(e)ine concentrations.
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