Saudubray JM - Search Results

1

A probable sex difference in mutation rates in ornithine transcarbamylase deficiency.

Bonaïti-Pellié C, Pelet A, Ogier H, Nelson JR, Largillière C, Berthelot J, Saudubray JM, Munnich A. Bonaïti-Pellié C, et al. Among authors: saudubray jm. Hum Genet. 1990 Jan;84(2):163-6. doi: 10.1007/BF00208933. Hum Genet. 1990. PMID: 2298452

2

Carrier detection in a partially dominant X-linked disease: ornithine transcarbamylase deficiency.

Pelet A, Rotig A, Bonaïti-Pellié C, Rabier D, Cormier V, Toumas E, Hentzen D, Saudubray JM, Munnich A. Pelet A, et al. Among authors: saudubray jm. Hum Genet. 1990 Jan;84(2):167-71. doi: 10.1007/BF00208934. Hum Genet. 1990. PMID: 2298453

3

[Genetic counseling in ornithine carbamoyltransferase deficiency].

Pelet A, Toumas E, Rabier D, Kaplan J, Kamoun P, Frezal J, Saudubray JM, Munnich A. Pelet A, et al. Among authors: saudubray jm. Ann Biol Clin (Paris). 1988;46(7):455-9. Ann Biol Clin (Paris). 1988. PMID: 2903704 French.

4

A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.

Ségues B, Veber PS, Rabier D, Calvas P, Saudubray JM, Gilbert-Dussardier B, Bonnefont JP, Munnich A. Ségues B, et al. Among authors: saudubray jm. Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#. Hum Mutat. 1996. PMID: 8956045 No abstract available.

5

Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy.

Cormier V, Rotig A, Tardieu M, Colonna M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: saudubray jm. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.

6

Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France.

Rey F, Berthelon M, Caillaud C, Lyonnet S, Abadie V, Blandin-Savoja F, Feingold J, Saudubray JM, Frézal J, Munnich A, et al. Rey F, et al. Among authors: saudubray jm. Am J Hum Genet. 1988 Dec;43(6):914-21. Am J Hum Genet. 1988. PMID: 2904221 Free PMC article.

7

Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Among authors: saudubray jm. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

8

Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder.

Coude FX, Ogier H, Charpentier C, Thomassin G, Checoury A, Amedee-Manesme O, Saudubray JM, Frezal J. Coude FX, et al. Among authors: saudubray jm. Hum Genet. 1981;59(3):263-5. doi: 10.1007/BF00283677. Hum Genet. 1981. PMID: 7199025

9

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. J Inherit Metab Dis. 1989;12 Suppl 1:25-41. doi: 10.1007/BF01799284. J Inherit Metab Dis. 1989. PMID: 2509810

10

Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.

Faivre L, Cormier-Daire V, Chrétien D, Christoph von Kleist-Retzow J, Amiel J, Dommergues M, Saudubray JM, Dumez Y, Rötig A, Rustin P, Munnich A. Faivre L, et al. Among authors: saudubray jm. Prenat Diagn. 2000 Sep;20(9):732-7. doi: 10.1002/1097-0223(200009)20:9<732::aid-pd916>3.0.co;2-#. Prenat Diagn. 2000. PMID: 11015702

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