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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Autores principales: Penelope Poyah, Joel Bergman, Laurette Geldenhuys, Glenda Wright, Noreen M. Walsh, Peter Hull, Kristina Roche, Michael L. West
Formato: article
Lenguaje:EN
Publicado: SAGE Publishing 2021
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Acceso en línea:https://doaj.org/article/e151fc151c6a43de9c36dd4a7880aaff
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