Munnich A - Search Results

1

[Carbohydrate-deficient blood glycoprotein syndrome].

de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: munnich a. Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6. Arch Pediatr. 2000. PMID: 10701064 Review. 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

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.

4

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.

5

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.

6

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

7

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Rötig A, Cormier V, Koll F, Mize CE, Saudubray JM, Veerman A, Pearson HA, Munnich A. Rötig A, et al. Among authors: munnich a. Genomics. 1991 Jun;10(2):502-4. doi: 10.1016/0888-7543(91)90342-c. Genomics. 1991. PMID: 1712754

8

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: munnich a. Am J Hum Genet. 1991 Apr;48(4):643-8. Am J Hum Genet. 1991. PMID: 2014791 Free PMC article.

9

[Mitochondrial cytopathies].

Munnich A, Saudubray JM. Munnich A, et al. Arch Fr Pediatr. 1991 Mar;48(3):163-6. Arch Fr Pediatr. 1991. PMID: 2048954 French. No abstract available.

10

Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome.

Cormier V, Rötig A, Quartino AR, Forni GL, Cerone R, Maier M, Saudubray JM, Munnich A. Cormier V, et al. Among authors: munnich a. J Pediatr. 1990 Oct;117(4):599-602. doi: 10.1016/s0022-3476(05)80698-5. J Pediatr. 1990. PMID: 2213388 No abstract available.

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