Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1A

Vitamin D dependent rickets is a rare autosomal recessive disorder secondary to mutation in 1 α hydroxylase enzyme gene. We are presenting a case of a two-year-old boy with vitamin D dependent rickets type 1A whose diagnosis was missed for a long period and he was treated as nutritional rickets. He...

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Detalles Bibliográficos
Autores principales: Ahmad, Noman, Mohamed Sobaihi, Mrouge, Al-Jabri, Mona, Al –Esaei, Nabil Abdulrahman, Al Zaydi, Abdullah M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2018
Materias:
Instructive Case
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6363249/
https://www.ncbi.nlm.nih.gov/pubmed/30805538
http://dx.doi.org/10.1016/j.ijpam.2018.05.001

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