Boutron A - Search Results

1

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency.

Costa C, Costa JM, Nuoffer JM, Slama A, Boutron A, Saudubray JM, Legrand A, Brivet M. Costa C, et al. Among authors: boutron a. J Inherit Metab Dis. 1999 May;22(3):267-70. doi: 10.1023/a:1005590223680. J Inherit Metab Dis. 1999. PMID: 10384384 No abstract available.

2

Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.

Brivet M, Tardieu M, Khellaf A, Boutron A, Rocchiccioli F, Haengeli CA, Lemonnier A. Brivet M, et al. Among authors: boutron a. J Inherit Metab Dis. 1991;14(3):333-7. doi: 10.1007/BF01811696. J Inherit Metab Dis. 1991. PMID: 1770786 No abstract available.

3

Diagnosis of carnitine acylcarnitine translocase deficiency by complementation analysis.

Brivet M, Slama A, Ogier H, Boutron A, Demaugre F, Saudubray JM, Lemonnier A. Brivet M, et al. Among authors: boutron a. J Inherit Metab Dis. 1994;17(3):271-4. doi: 10.1007/BF00711805. J Inherit Metab Dis. 1994. PMID: 7807931 No abstract available.

4

Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.

Brivet M, Slama A, Millington DS, Roe CR, Demaugre F, Legrand A, Boutron A, Poggi F, Saudubray JM. Brivet M, et al. Among authors: boutron a. J Inherit Metab Dis. 1996;19(2):181-4. doi: 10.1007/BF01799424. J Inherit Metab Dis. 1996. PMID: 8739960 No abstract available.

5

Complementation analysis of carnitine palmitoyltransferase I and II defects.

Slama A, Brivet M, Boutron A, Legrand A, Saudubray JM, Demaugre F. Slama A, et al. Among authors: boutron a. Pediatr Res. 1996 Oct;40(4):542-6. doi: 10.1203/00006450-199610000-00005. Pediatr Res. 1996. PMID: 8888280

6

Interleukin-1 beta and interleukin-6 stimulate 2-methylaminoisobutyric acid uptake in HepG2 cells.

Goenner S, Cosson C, Boutron A, Legrand A, Moatti N. Goenner S, et al. Among authors: boutron a. Int J Biochem Cell Biol. 1997 Apr;29(4):667-74. doi: 10.1016/s1357-2725(97)00002-2. Int J Biochem Cell Biol. 1997. PMID: 9363644

7

Defects in activation and transport of fatty acids.

Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray JM, Bonnefont JP. Brivet M, et al. Among authors: boutron a. J Inherit Metab Dis. 1999 Jun;22(4):428-41. doi: 10.1023/a:1005552106301. J Inherit Metab Dis. 1999. PMID: 10407779 Review.

8

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

Costa C, Costa JM, Slama A, Boutron A, Vequaud C, Legrand A, Brivet M. Costa C, et al. Among authors: boutron a. Mol Genet Metab. 2003 Jan;78(1):68-73. doi: 10.1016/s1096-7192(02)00205-6. Mol Genet Metab. 2003. PMID: 12559850

9

Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.

Fouque F, Brivet M, Boutron A, Vequaud C, Marsac C, Zabot MT, Benelli C. Fouque F, et al. Among authors: boutron a. Pediatr Res. 2003 May;53(5):793-9. doi: 10.1203/01.PDR.0000057987.46622.64. Epub 2003 Mar 5. Pediatr Res. 2003. PMID: 12621116

10

Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.

Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM. Brivet M, et al. Among authors: boutron a. Mol Genet Metab. 2003 Mar;78(3):186-92. doi: 10.1016/s1096-7192(03)00016-7. Mol Genet Metab. 2003. PMID: 12649063

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