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Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2013, Volume 109, Issue 2, pp. 227 - 229
Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy... 
Journal Article
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 1468-6244, 01/2011, Volume 48, Issue 3, pp. 183 - 189
BACKGROUND: The natural history of all known patients with French-Canadian Leigh disease (Saguenay-Lac-St-Jean cytochrome c oxidase deficiency, MIM220111,... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2007, Volume 143A, Issue 17, pp. 2046 - 2051
Journal Article
Pediatrics, ISSN 0031-4005, 04/2007, Volume 119, Issue 4, pp. 722 - 733
OBJECTIVES. We sought to determine the clinical spectrum, survival, and long-term functional outcome of a cohort of pediatric patients with mitochondrial... 
Journal Article
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