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4-Hydroxyglutamate Is a Biomarker for Primary Hyperoxaluria Type 3

Primary hyperoxaluria type 3 (PH3) is a recently identified inborn error of 4-hydroxyproline metabolism causing kidney stone disease. Diagnosis to date has relied on mutation detection. The excretion of 4-hydroxyglutamate (4OHGlu) was investigated in controls and a cohort of nine patients with PH3 a...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Pitt, James J, Willis, Frank, Tzanakos, Nicholas, Belostotsky, Ruth, Frishberg, Yaacov
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270872/
https://ncbi.nlm.nih.gov/pubmed/24563386
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_291
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