Saudubray JM - Search Results

1

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.

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

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.

Segues B, Rozet JM, Gilbert B, Saugier-Veber P, Rabier D, Saudubray JM, Carré M, Rouleau FP, Menget A, Bonardi JM, et al. Segues B, et al. Among authors: saudubray jm. Prenat Diagn. 1995 Aug;15(8):757-61. doi: 10.1002/pd.1970150812. Prenat Diagn. 1995. PMID: 7479595

4

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.

5

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

6

Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.

Rabier D, Benoit A, Petit F, Chekoury A, Bonnefont JP, Saudubray JM, Kamoun P. Rabier D, et al. Among authors: saudubray jm. Clin Chim Acta. 1989 Dec 29;186(1):25-9. doi: 10.1016/0009-8981(89)90199-x. Clin Chim Acta. 1989. PMID: 2612006

7

[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].

Saudubray JM, Lyonnet S, Lombes A, Hervé F, Bonnefont JP, Munnich A, Ogier H. Saudubray JM, et al. J Genet Hum. 1989 Dec;37(4-5):299-310. J Genet Hum. 1989. PMID: 2635710 French. No abstract available.

8

[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.

9

Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.

Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP. Thuillier L, et al. Among authors: saudubray jm. Hum Mutat. 2003 May;21(5):493-501. doi: 10.1002/humu.10201. Hum Mutat. 2003. PMID: 12673791

10

[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: saudubray jm. Arch Pediatr. 1994 Nov;1(11):1023-7. Arch Pediatr. 1994. PMID: 7834040 French.

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