A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1–Cog8 interaction in COG complex formation

By Foulquier François   Ungar Daniel   Reynders Ellen   Zeevaert Renate   Mills Philippa   García-Silva Maria Teresa   Briones Paz   Winchester Bryan   Morelle Willy   Krieger Monty   Annaert Willem  

Human Molecular Genetics, Vol. 16, Iss. 7, 2007-04 ,pp. : 717-730

Oxford University Press

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-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities

By van Kuilenburg André B.P.  

Human Molecular Genetics, Vol. 13, Iss. 22, 2004-11 ,pp. : 2793-2801

Oxford University Press

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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ 1 -pyrroline-5-carboxylate synthase

By Baumgartner Matthias R.  

Human Molecular Genetics, Vol. 9, Iss. 19, 2000-11 ,pp. : 2853-2858

Oxford University Press

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Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F 1 subunit

By Mayr Johannes A.   Havlkov Vendula   Zimmermann Franz   Magler Iris   Kaplanov Vilma   Jeina Pavel   Pecinov Alena   Nskov Hana   Koch Johannes   Sperl Wolfgang   Houtk Josef  

Human Molecular Genetics, Vol. 19, Iss. 17, 2010-09 ,pp. : 3430-3439

Oxford University Press

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Cytochrome c oxidase deficiency due to mutations in SCO2 , encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts

By Jaksch Michaela  

Human Molecular Genetics, Vol. 10, Iss. 26, 2001-12 ,pp. : 3025-3035

Oxford University Press

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