| Literature DB >> 16151915 |
J Loeffen1, R Smeets, T Voit, G Hoffmann, J Smeitink.
Abstract
A fumarase-deficient patient expressed a novel phenotype of congenital cerebral ventricular dilatation and periventricular cysts. The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients.Entities:
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Year: 2005 PMID： 16151915 DOI： 10.1007/s10545-005-0044-7
Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982