Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

BACKGROUND: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glyce...

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Detalles Bibliográficos
Autores principales: Konkoľová, Jana, Chandoga, Ján, Kováčik, Juraj, Repiský, Marcel, Kramarová, Veronika, Paučinová, Ivana, Böhmer, Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5452357/
https://www.ncbi.nlm.nih.gov/pubmed/28569194
http://dx.doi.org/10.1186/s12881-017-0421-8

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