13 results on '"Rabier, D."'
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2. A SHORT-TERM ANAPLEROTIC THERAPEUTIC INTERVENTION IMPROVES PERIPHERAL ENERGY METABOLISM IN PATIENTS WITH HUNTINGTON DISEASE: D08
3. Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
4. Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: Report of a 15 years, experience
5. Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture
6. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation
7. Methylmalonic and propionic acidaemias: Management and outcome
8. Urea cycle defects: Management and outcome
9. Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria
10. Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis
11. Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement
12. Neutrophil-derived long-lived oxidants in cystic fibrosis sputum.
13. Mutation of the Fumarase Gene in Two Siblings With Progressive Encephalopathy and Fumarase Deficiency
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