Bonnefont JP - Search Results

1

Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.

Saudubray JM, Ogier H, Bonnefont JP, Munnich A, Lombes A, Hervé F, Mitchel G, Thé BP, Specola N, Parvy P, et al. Saudubray JM, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1989;12 Suppl 1:25-41. doi: 10.1007/BF01799284. J Inherit Metab Dis. 1989. PMID: 2509810

2

Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency.

Stanley CA, Sunaryo F, Hale DE, Bonnefont JP, Demaugre F, Saudubray JM. Stanley CA, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1992;15(5):785-9. doi: 10.1007/BF01800021. J Inherit Metab Dis. 1992. PMID: 1434517

3

Approach to the patient with a fatty acid oxidation disorder.

Saudubray JM, Mitchell G, Bonnefont JP, Schwartz G, Nuttin C, Munnich A, Brivet M, Vassault A, Demaugre F, Rabier D, et al. Saudubray JM, et al. Among authors: bonnefont jp. Prog Clin Biol Res. 1992;375:271-88. Prog Clin Biol Res. 1992. PMID: 1438373 Review. No abstract available.

4

Pathophysiological approach to carnitine palmitoyltransferase II deficiencies.

Demaugre F, Bonnefont JP, Brivet M, Cepanec C, Pollitt RJ, Priestley BL, Saudubray JM, Leroux JP. Demaugre F, et al. Among authors: bonnefont jp. Prog Clin Biol Res. 1992;375:301-8. Prog Clin Biol Res. 1992. PMID: 1438375 No abstract available.

5

Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.

Wanders RJ, IJlst L, Poggi F, Bonnefont JP, Munnich A, Brivet M, Rabier D, Saudubray JM. Wanders RJ, et al. Among authors: bonnefont jp. Biochem Biophys Res Commun. 1992 Nov 16;188(3):1139-45. doi: 10.1016/0006-291x(92)91350-y. Biochem Biophys Res Commun. 1992. PMID: 1445348

6

Clinical aspects of mitochondrial disorders.

Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Munnich A, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005

7

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. J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0. J Pediatr. 1992. PMID: 1640293

8

Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN, et al. Stanley CA, et al. Among authors: bonnefont jp. Ann Neurol. 1991 Nov;30(5):709-16. doi: 10.1002/ana.410300512. Ann Neurol. 1991. PMID: 1763895 Review.

9

Organic acids in aqueous humour and plasma: post mortem study in infants and diagnosis of enzymopathies.

Coude MM, Charpentier C, Bonnefont JP, Cheron G, Kamoun P. Coude MM, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1991;14(5):668-73. doi: 10.1007/BF01799931. J Inherit Metab Dis. 1991. PMID: 1779612

10

Hepatic failure in disorders of oxidative phosphorylation with neonatal onset.

Cormier V, Rustin P, Bonnefont JP, Rambaud C, Vassault A, Rabier D, Parvy P, Couderc S, Parrot-Roulaud F, Carré M, et al. Cormier V, et al. Among authors: bonnefont jp. J Pediatr. 1991 Dec;119(6):951-4. doi: 10.1016/s0022-3476(05)83054-9. J Pediatr. 1991. PMID: 1960616 No abstract available.

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