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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.
Clinical approach to inherited metabolic disorders in neonates.
Saudubray JM, Narcy C, Lyonnet L, Bonnefont JP, Poll The BT, Munnich A. Saudubray JM, et al. Among authors: bonnefont jp. Biol Neonate. 1990;58 Suppl 1:44-53. doi: 10.1159/000243299. Biol Neonate. 1990. PMID: 2265219 Review.
[Research methods in metabolic myopathies in children].
Lombes A, Ogier H, Bonnefont JP, Munnich A, Saudubray JM. Lombes A, et al. Among authors: bonnefont jp. Ann Med Interne (Paris). 1987;138(6):441-3. Ann Med Interne (Paris). 1987. PMID: 3324848 Review. French. No abstract available.
[Sulfite oxidase deficiency presenting as Leigh syndrome].
Amiel J, Gagey V, Rabier D, Dorche C, Bonnefont JP, Dufier JL, Saudubray JM, Rey J, Munnich A. Amiel J, et al. Among authors: bonnefont jp. Arch Pediatr. 1994 Nov;1(11):1023-7. Arch Pediatr. 1994. PMID: 7834040 French.
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Gilbert-Dussardier B, Rabier D, Strautnieks S, Segues B, Bonnefont JP, Munnich A. Gilbert-Dussardier B, et al. Among authors: bonnefont jp. Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831. Hum Mol Genet. 1994. PMID: 8081373 No abstract available.
229 results