Bonnefont JP - Search Results

1

Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM. Demaugre F, et al. Among authors: bonnefont jp. J Clin Invest. 1991 Mar;87(3):859-64. doi: 10.1172/JCI115090. J Clin Invest. 1991. PMID: 1999498 Free PMC article.

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

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

7

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.

8

A simple isotopic technique for assessing vitamin responsiveness in vivo in propionic acidaemia.

Thompson GN, Bresson JL, Bonnefont JP, Walter JH, Read MA, Saudubray JM, Leonard JV, Halliday D. Thompson GN, et al. Among authors: bonnefont jp. J Inherit Metab Dis. 1990;13(3):349-51. doi: 10.1007/BF01799392. J Inherit Metab Dis. 1990. PMID: 2122099 No abstract available.

9

Protein and leucine metabolism in maple syrup urine disease.

Thompson GN, Bresson JL, Pacy PJ, Bonnefont JP, Walter JH, Leonard JV, Saudubray JM, Halliday D. Thompson GN, et al. Among authors: bonnefont jp. Am J Physiol. 1990 Apr;258(4 Pt 1):E654-60. doi: 10.1152/ajpendo.1990.258.4.E654. Am J Physiol. 1990. PMID: 2185648

10

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, et al. Rötig A, et al. Among authors: bonnefont jp. J Clin Invest. 1990 Nov;86(5):1601-8. doi: 10.1172/JCI114881. J Clin Invest. 1990. PMID: 2243133 Free PMC article.

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