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1997 | 1 |
1998 | 1 |
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Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3.
Brain Dev. 1998 Jan;20(1):33-5. doi: 10.1016/s0387-7604(97)00096-x.
Brain Dev. 1998.
PMID: 9533558
Clinical Trial.
Despite attainment of high plasma levels of coenzyme Q10, no clinical benefit was observed and there was no diminution of urinary excretion of 3-methylglutaconic acid....
Despite attainment of high plasma levels of coenzyme Q10, no clinical benefit was observed and there was no diminution of urinary exc …
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
Nystuen A, Costeff H, Elpeleg ON, Apter N, Bonné-Tamir B, Mohrenweiser H, Haider N, Stone EM, Sheffield VC.
Nystuen A, et al.
Hum Mol Genet. 1997 Apr;6(4):563-9. doi: 10.1093/hmg/6.4.563.
Hum Mol Genet. 1997.
PMID: 9097959
In this study we identify linkage to chromosome 19q13.2-q13.3 by using a DNA pooling strategy to perform a genome wide screen followed by a high density search for shared segments among affected individuals in candidate regions identified in the initial genome wide screen. A sign …
In this study we identify linkage to chromosome 19q13.2-q13.3 by using a DNA pooling strategy to perform a genome wide screen followed by a …
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