Munnich A - Search Results

1

[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: munnich a. Ann Biol Clin (Paris). 1988;46(7):455-9. Ann Biol Clin (Paris). 1988. PMID: 2903704 French.

2

[Phenotypic expression of 12 mutations of the phenylalanine hydroxylase gene].

Rey F, Abadie V, Lyonnet S, Berthelon M, Caillaud C, Melle D, Labrune P, Saudubray JM, Munnich A, Rey J. Rey F, et al. Among authors: munnich a. Arch Fr Pediatr. 1992 Oct;49(8):705-10. Arch Fr Pediatr. 1992. PMID: 1288453 French.

3

Site specific screening for point mutations in ornithine transcarbamylase deficiency.

Feldmann D, Rozet JM, Pelet A, Hentzen D, Briand P, Hubert P, Largilliere C, Rabier D, Farriaux JP, Munnich A. Feldmann D, et al. Among authors: munnich a. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

4

X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

Serville F, Lyonnet S, Pelet A, Reynaud M, Louail C, Munnich A, Le Merrer M. Serville F, et al. Among authors: munnich a. Eur J Pediatr. 1992 Jul;151(7):515-8. doi: 10.1007/BF01957757. Eur J Pediatr. 1992. PMID: 1396913

5

Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.

Søvik O, Saudubray JM, Munnich A, Sweetman L. Søvik O, et al. Among authors: munnich a. J Inherit Metab Dis. 1992;15(3):359-62. doi: 10.1007/BF02435976. J Inherit Metab Dis. 1992. PMID: 1405470 No abstract available.

6

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: munnich a. Prog Clin Biol Res. 1992;375:271-88. Prog Clin Biol Res. 1992. PMID: 1438373 Review. No abstract available.

7

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: munnich a. 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

8

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: munnich a. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.

9

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. Among authors: munnich a. J Pediatr. 1992 Aug;121(2):255-8. doi: 10.1016/s0022-3476(05)81199-0. J Pediatr. 1992. PMID: 1640293

10

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan J, Pelet A, Hentati H, Jeanpierre M, Briard ML, Journel H, Munnich A, Dufier JL. Kaplan J, et al. Among authors: munnich a. J Med Genet. 1991 Jun;28(6):383-8. doi: 10.1136/jmg.28.6.383. J Med Genet. 1991. PMID: 1678432 Free PMC article.

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