Largilliere C - Search Results

1

Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness.

Manouvrier S, Rötig A, Hannebique G, Gheerbrandt JD, Royer-Legrain G, Munnich A, Parent M, Grünfeld JP, Largilliere C, Lombes A, et al. Manouvrier S, et al. Among authors: largilliere c. J Med Genet. 1995 Aug;32(8):654-6. doi: 10.1136/jmg.32.8.654. J Med Genet. 1995. PMID: 7473662 Free PMC article.

2

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: largilliere c. J Med Genet. 1992 Jul;29(7):471-5. J Med Genet. 1992. PMID: 1353535 Free PMC article.

3

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: largilliere c. Hum Genet. 1990 Jan;84(2):163-6. doi: 10.1007/BF00208933. Hum Genet. 1990. PMID: 2298452

4

[Mitochondrial myopathy. Encephalopathy with lactic acidosis and cerebral infarction].

Destée A, Martin JJ, Muller JP, Scholte HR, Verier A, Largillière C, Warot P. Destée A, et al. Among authors: largilliere c. Rev Neurol (Paris). 1989;145(1):37-48. Rev Neurol (Paris). 1989. PMID: 2646681 Review. French.

5

[The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report].

Manouvrier-Hanu S, Largillière C, Farriaux JP. Manouvrier-Hanu S, et al. Among authors: largilliere c. J Genet Hum. 1988 Aug;36(4):373-8. J Genet Hum. 1988. PMID: 3065457 Review. French. No abstract available.

6

Physical growth in patients with phenylketonuria.

Dhondt JL, Largillière C, Moreno L, Farriaux JP. Dhondt JL, et al. Among authors: largilliere c. J Inherit Metab Dis. 1995;18(2):135-7. doi: 10.1007/BF00711748. J Inherit Metab Dis. 1995. PMID: 7564228 No abstract available.

7

Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.

Largillière C, Vianey-Saban C, Fontaine M, Bertrand C, Kacet N, Farriaux JP. Largillière C, et al. Arch Dis Child Fetal Neonatal Ed. 1995 Sep;73(2):F103-5. doi: 10.1136/fn.73.2.f103. Arch Dis Child Fetal Neonatal Ed. 1995. PMID: 7583594 Free PMC article.

8

Ornithine transcarbamylase deficiency in a boy with long survival.

Largilliere C, Farriaux JP. Largilliere C, et al. J Pediatr. 1988 Nov;113(5):952. doi: 10.1016/s0022-3476(88)80042-8. J Pediatr. 1988. PMID: 3183859 No abstract available.

9

Liver transplantation for ornithine transcarbamylase deficiency in a girl.

Largillière C, Houssin D, Gottrand F, Mathey C, Checoury A, Alagille D, Farriaux JP. Largillière C, et al. J Pediatr. 1989 Sep;115(3):415-7. doi: 10.1016/s0022-3476(89)80843-1. J Pediatr. 1989. PMID: 2671328 No abstract available.

10

Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.

Klosowski S, Largilliere C, Storme L, Rakza T, Rabier D, Lequien P. Klosowski S, et al. Among authors: largilliere c. Acta Paediatr. 1998 Feb;87(2):227-8. doi: 10.1080/08035259850157723. Acta Paediatr. 1998. PMID: 9512214 No abstract available.

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