| Literature DB >> 14765537 |
S M S Budde1, L P W J van den Heuvel, R J P Smeets, D Skladal, J A Mayr, C Boelen, V Petruzzella, S Papa, J A M Smeitink.
Abstract
A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.Entities:
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Year: 2003 PMID： 14765537 DOI： 10.1023/b:boli.0000010003.14113.af
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982