Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population

BACKGROUND: Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition worldwide, its prevalence is high in the Saguenay-Lac-Saint-Jean (SL...

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Detalles Bibliográficos
Autores principales: Fortin, Carol-Ann, Girard, Lysanne, Bonenfant, Chloé, Leblanc, Josianne, Cruz-Marino, Tania, Blackburn, Marie-Eve, Desmeules, Mathieu, Bouchard, Luigi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120640/
https://www.ncbi.nlm.nih.gov/pubmed/35600579
http://dx.doi.org/10.3389/fendo.2022.887371

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120640/
https://www.ncbi.nlm.nih.gov/pubmed/35600579
http://dx.doi.org/10.3389/fendo.2022.887371

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