Identification of genes involved in congenital disorders of glycosylation and 3 methylglutaconic aciduria
|Study ID||Alternative Stable ID||Type|
Study Datasets 1 dataset.
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Identification of genes involved in congenital disorders of glycosylation and 3-methylglutaconic aciduria. There are more than 100 genes known for congenital disorders of glycosylation and new disorders are discovered each year. WE included patients with a so far unsolved glycosylation disease. The diagnostic group 3-methyglutaconic aciduria is a heterogenous group of disorders mostly caused by abnormal phospholipid synthesis or in association with mitochondrial dysfunction. We included ... (Show More)
|Illumina HiSeq 2500||31|