Blessing in disguise: when head trauma solves the riddle of carbonic anhydrase II deficiency

Carbonic anhydrase II deficiency is a rare autosomal recessive disorder with a classical triad of renal tubular acidosis, intracerebral calcifications and osteopetrosis. We present a case of a 6-year and 4-months old male patient presented to our pediatric gastroenterology outpatients’ clinic with p...

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Detalles Bibliográficos
Autores principales: Al Zu'bi, Yazan O., Al Sharie, Ahmed H., Dwairi, Waed, Altamimi, Eyad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753056/
https://www.ncbi.nlm.nih.gov/pubmed/35035649
http://dx.doi.org/10.1016/j.radcr.2021.12.004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8753056/
https://www.ncbi.nlm.nih.gov/pubmed/35035649
http://dx.doi.org/10.1016/j.radcr.2021.12.004

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