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Page 1
Respiratory chain deficiency in Alpers syndrome.
Gauthier-Villars M, Landrieu P, Cormier-Daire V, Jacquemin E, Chrétien D, Rötig A, Rustin P, Munnich A, de Lonlay P. Gauthier-Villars M, et al. Among authors: munnich a. Neuropediatrics. 2001 Jun;32(3):150-2. doi: 10.1055/s-2001-16614. Neuropediatrics. 2001. PMID: 11521212
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
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Barnérias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Barnérias C, et al. Among authors: munnich a. Dev Med Child Neurol. 2006 Mar;48(3):227-30. doi: 10.1017/S001216220600048X. Dev Med Child Neurol. 2006. PMID: 16483401 Free article.
Craniofacial anomalies and malformations in respiratory chain deficiency.
Cormier-Daire V, Rustin P, Rötig A, Chrétien D, Le Merrer M, Belli D, Le Goff A, Hubert P, Ricour C, Munnich A. Cormier-Daire V, et al. Among authors: munnich a. Am J Med Genet. 1996 Dec 30;66(4):457-63. doi: 10.1002/(SICI)1096-8628(19961230)66:4<457::AID-AJMG15>3.0.CO;2-T. Am J Med Genet. 1996. PMID: 8989468
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chrétien D, Rötig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A. de Lonlay-Debeney P, et al. Among authors: munnich a. J Pediatr. 2000 Feb;136(2):209-14. doi: 10.1016/s0022-3476(00)70103-x. J Pediatr. 2000. PMID: 10657827
1,062 results