Author:
Morava Eva,Rahman Shamima,Peters Verena,Baumgartner Matthias R.,Patterson Marc,Zschocke Johannes
Subject
Genetics (clinical),Genetics
Reference19 articles.
1. Carrillo-Carrasco N, Adams D, Venditti CP (2008) Disorders of intracellular cobalamin metabolism [updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) GeneReviews®. University of Washington, Seattle, 1993–2015
2. Caterino M, Pastore A, Strozziero MG, Di Giovamberardino G, Imperlini E et al (2015) The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans. J Inherit Metab Dis. PubMed
3. Freeze HH, Eklund EA, Ng BG, Patterson MC (2015) Neurological aspects of human glycosylation disorders. Annu Rev Neurosci. PubMed
4. Kanabus M, Shahni R, Saldanha JW, Murphy E, Plagnol V et al (2015) Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. J Inherit Metab Dis 38(2):211–219
5. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B et al (2008) Impaired glycosylation and cutis laxa caused bymutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 40:32–34
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