Munnich A - Search Results

1

Respiratory chain deficiency presenting as congenital nephrotic syndrome.

Goldenberg A, Ngoc LH, Thouret MC, Cormier-Daire V, Gagnadoux MF, Chrétien D, Lefrançois C, Geromel V, Rötig A, Rustin P, Munnich A, Paquis V, Antignac C, Gubler MC, Niaudet P, de Lonlay P, Bérard E. Goldenberg A, et al. Among authors: munnich a. Pediatr Nephrol. 2005 Apr;20(4):465-9. doi: 10.1007/s00467-004-1725-4. Epub 2005 Jan 29. Pediatr Nephrol. 2005. PMID: 15682315

2

Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.

Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: munnich a. Biochem Biophys Res Commun. 1992 Jul 15;186(1):16-23. doi: 10.1016/s0006-291x(05)80769-7. Biochem Biophys Res Commun. 1992. PMID: 1321601

3

Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.

Bourgeron T, Chrétien D, Rötig A, Munnich A, Rustin P. Bourgeron T, et al. Among authors: munnich a. Prenat Diagn. 1992 Jun;12(6):548-9. doi: 10.1002/pd.1970120614. Prenat Diagn. 1992. PMID: 1325051 No abstract available.

4

3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects.

Gibson KM, Bennett MJ, Mize CE, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz FK. Gibson KM, et al. Among authors: munnich a. J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8. J Pediatr. 1992. PMID: 1447663

5

Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

Burgeois M, Goutieres F, Chretien D, Rustin P, Munnich A, Aicardi J. Burgeois M, et al. Among authors: munnich a. Brain Dev. 1992 Nov;14(6):404-8. doi: 10.1016/s0387-7604(12)80349-4. Brain Dev. 1992. PMID: 1492653

6

Clinical aspects of mitochondrial disorders.

Munnich A, Rustin P, Rötig A, Chretien D, Bonnefont JP, Nuttin C, Cormier V, Vassault A, Parvy P, Bardet J, et al. Munnich A, et al. J Inherit Metab Dis. 1992;15(4):448-55. doi: 10.1007/BF01799603. J Inherit Metab Dis. 1992. PMID: 1528005

7

[Enzymatic activities of the mitochondrial respiratory chain in child cardiomyopathies. 34 cases prospectively studied by endomyocardial biopsy].

Sidi D, Le Bidois J, Piéchaud JF, Da Cruz E, Marchal C, Gournay V, Kachaner J, Rustin P, Chrétien D, Munnich A. Sidi D, et al. Among authors: munnich a. Arch Mal Coeur Vaiss. 1992 May;85(5):541-6. Arch Mal Coeur Vaiss. 1992. PMID: 1530392 French.

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

[Metabolic, enzymological and molecular assessment of mitochondrial cytopathies].

Munnich A, Rotig A. Munnich A, et al. Pediatrie. 1991;46(6-7):509-14. Pediatrie. 1991. PMID: 1664083 French.

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