Saudubray JM - Search Results

1

Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.

Bonnefont JP, Chretien D, Rustin P, Robinson B, Vassault A, Aupetit J, Charpentier C, Rabier D, Saudubray JM, Munnich A. Bonnefont JP, et al. Among authors: saudubray jm. J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0. J Pediatr. 1992. PMID: 1640293

2

Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failure.

Edery P, Gérard B, Chretien D, Rötig A, Cerrone R, Rabier D, Rambaud C, Fabre M, Saudubray JM, Munnich A, et al. Edery P, et al. Among authors: saudubray jm. Eur J Pediatr. 1994 Mar;153(3):190-4. doi: 10.1007/BF01958984. Eur J Pediatr. 1994. PMID: 8181505

3

Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy.

Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogler H, Schmitz J, Ricour C, Saudubray JM, Munnich A, Rötig A. Cormier-Daire V, et al. Among authors: saudubray jm. J Pediatr. 1994 Jan;124(1):63-70. doi: 10.1016/s0022-3476(94)70255-1. J Pediatr. 1994. PMID: 8283377

4

Clinical presentations and laboratory investigations in respiratory chain deficiency.

Munnich A, Rötig A, Chretien D, Saudubray JM, Cormier V, Rustin P. Munnich A, et al. Among authors: saudubray jm. Eur J Pediatr. 1996 Apr;155(4):262-74. doi: 10.1007/BF02002711. Eur J Pediatr. 1996. PMID: 8777918 Review.

5

Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.

Poggi-Travert F, Martin D, Billette de Villemeur T, Bonnefont JP, Vassault A, Rabier D, Charpentier C, Kamoun P, Munnich A, Saudubray JM. Poggi-Travert F, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1996;19(4):478-88. doi: 10.1007/BF01799109. J Inherit Metab Dis. 1996. PMID: 8884572 Review.

6

The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.

Parfait B, de Lonlay P, von Kleist-Retzow JC, Cormier-Daire V, Chrétien D, Rötig A, Rabier D, Saudubray JM, Rustin P, Munnich A. Parfait B, et al. Among authors: saudubray jm. Eur J Pediatr. 1999 Jan;158(1):55-8. doi: 10.1007/s004310051009. Eur J Pediatr. 1999. PMID: 9950309

7

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

Bonnefont JP, Specola NB, Vassault A, Lombes A, Ogier H, de Klerk JB, Munnich A, Coude M, Paturneau-Jouas M, Saudubray JM. Bonnefont JP, et al. Among authors: saudubray jm. Eur J Pediatr. 1990 Dec;150(2):80-5. doi: 10.1007/BF02072043. Eur J Pediatr. 1990. PMID: 2279514

8

Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients.

Garcia-Cazorla A, De Lonlay P, Rustin P, Chretien D, Touati G, Rabier D, Slama A, Saudubray JM. Garcia-Cazorla A, et al. Among authors: saudubray jm. J Pediatr. 2006 Sep;149(3):401-405. doi: 10.1016/j.jpeds.2006.05.036. J Pediatr. 2006. PMID: 16939756

9

Antenatal manifestations of mitochondrial respiratory chain deficiency.

von Kleist-Retzow JC, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J, Saada P, Dumez Y, Brunelle F, Saudubray JM, Chrétien D, Rötig A, Rustin P, Munnich A, De Lonlay P. von Kleist-Retzow JC, et al. Among authors: saudubray jm. J Pediatr. 2003 Aug;143(2):208-12. doi: 10.1067/S0022-3476(03)00130-6. J Pediatr. 2003. PMID: 12970634

10

Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.

Munnich A, Saudubray JM, Taylor J, Charpentier C, Marsac C, Rocchiccioli F, Amedee-Manesme O, Coude FX, Frezal J, Robinson BH. Munnich A, et al. Among authors: saudubray jm. Acta Paediatr Scand. 1982 Jan;71(1):167-71. doi: 10.1111/j.1651-2227.1982.tb09393.x. Acta Paediatr Scand. 1982. PMID: 6897145

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