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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| Materias: | |
| 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 |