Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism

Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. We report the case of a 3-year-...

Descripción completa

Detalles Bibliográficos
Autores principales: Rivero-García, Pamela, Aguilar-Lugo-Gerez, Juan José, Kimball, Tamara N, Reza-Albarrán, Alfredo Adolfo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580408/
https://www.ncbi.nlm.nih.gov/pubmed/37908980
http://dx.doi.org/10.1210/jcemcr/luad084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10580408/
https://www.ncbi.nlm.nih.gov/pubmed/37908980
http://dx.doi.org/10.1210/jcemcr/luad084

Ejemplares similares