Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

An uncharacterized multisystemic mitochondrial cytopathy was diagnosed in two infants from consanguineous Palestinian kindred living in a single village. The most significant clinical findings were tubulopathy (hyperuricemia, metabolic alkalosis), pulmonary hypertension, and progressive renal failur...

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Hlavní autoři: Belostotsky, Ruth, Ben-Shalom, Efrat, Rinat, Choni, Becker-Cohen, Rachel, Feinstein, Sofia, Zeligson, Sharon, Segel, Reeval, Elpeleg, Orly, Nassar, Suheir, Frishberg, Yaacov
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3035710/
https://ncbi.nlm.nih.gov/pubmed/21255763
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2010.12.010
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