Primary Hyperoxaluria Type 1 (PH1) Presenting With End-Stage Kidney Disease and Cutaneous Manifestations in Adulthood: A Case Report

RATIONALE: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder more commonly diagnosed in children or adolescents. Owing to its rarity and heterogeneous phenotype, it is often underrecognized, resulting in delayed diagnosis, including diagnosis after end-stage kidney disease (ESKD) has...

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Detalles Bibliográficos
Autores principales: Poyah, Penelope, Bergman, Joel, Geldenhuys, Laurette, Wright, Glenda, Walsh, Noreen M., Hull, Peter, Roche, Kristina, West, Michael L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Educational Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8613886/
https://www.ncbi.nlm.nih.gov/pubmed/34840803
http://dx.doi.org/10.1177/20543581211058931

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