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Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations
BACKGROUND: Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, leading to urolithiasis, nephrocalcinosis, and consequent r...
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| Publicado no: | BMC Nephrol |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5625645/ https://ncbi.nlm.nih.gov/pubmed/28969594 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-017-0719-y |
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