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P Divry

Showing results (101-110 of 114) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1985
Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosisP Desjacques, B Mousson, C Vianey-Liaud, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new caseN Guffon, C Lopez-Mediavilla, R Dumoulin, et al.
Pediatrics|May 1, 1993
Clinical and biochemical phenotype in 11 patients with mevalonic aciduriaG F Hoffmann, C Charpentier, E Mayatepek, et al.
European Journal of Pediatrics|May 20, 1999
N-acetylaspartylglutamate in Canavan disease: an adverse effector?A P Burlina, V Ferrari, P Divry, et al.
European Journal of Pediatrics|December 22, 1999
Combined liver-kidney transplantation in primary hyperoxaluria type 1P Cochat, J M Gaulier, P C Koch Nogueira, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric aciduria: two further casesP Divry, C Jakobs, C Vianey-Saban, et al.
American Journal of Human Genetics|July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson, R M Ross, S Krisans, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?B T Poll-The, J P Bonnefont, H Ogier, et al.
The Biochemical Journal|April 15, 1997
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJ Pié, N Casals, C H Casale, et al.
European Journal of Pediatrics|October 1, 1988
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normalK M Gibson, W L Nyhan, L Sweetman, et al.
Pageof 12

Showing results (101-110 of 114) with videos related to

Sort By:
Pageof 12
Journal of Inherited Metabolic Disease|January 1, 1985
Combined deficiency of xanthine oxidase and sulphite oxidase: diagnosis of a new case followed by an antenatal diagnosisP Desjacques, B Mousson, C Vianey-Liaud, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
2-Ketoglutarate dehydrogenase deficiency, a rare cause of primary hyperlactataemia: report of a new caseN Guffon, C Lopez-Mediavilla, R Dumoulin, et al.
Pediatrics|May 1, 1993
Clinical and biochemical phenotype in 11 patients with mevalonic aciduriaG F Hoffmann, C Charpentier, E Mayatepek, et al.
European Journal of Pediatrics|May 20, 1999
N-acetylaspartylglutamate in Canavan disease: an adverse effector?A P Burlina, V Ferrari, P Divry, et al.
European Journal of Pediatrics|December 22, 1999
Combined liver-kidney transplantation in primary hyperoxaluria type 1P Cochat, J M Gaulier, P C Koch Nogueira, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric aciduria: two further casesP Divry, C Jakobs, C Vianey-Saban, et al.
American Journal of Human Genetics|July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson, R M Ross, S Krisans, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?B T Poll-The, J P Bonnefont, H Ogier, et al.
The Biochemical Journal|April 15, 1997
A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyJ Pié, N Casals, C H Casale, et al.
European Journal of Pediatrics|October 1, 1988
3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normalK M Gibson, W L Nyhan, L Sweetman, et al.
Pageof 12