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pro vyhledávání: '"Shruti Namdeo"'
Autor:
Rajkumar Kundavaram, Saswat Ranjan Raul, Vishnu Dev, Shruti Namdeo, Priya Gogia, Kirtisudha Mishra, Girish Chandra Bhatt
Publikováno v:
Indian Pediatrics Case Reports, Vol 4, Iss 4, Pp 252-255 (2024)
Background: Carbonic anhydrase II (CA II) deficiency is a rare autosomal recessive genetic disorder presenting with the characteristic triad of osteopetrosis, renal tubular acidosis (RTA), and intracerebral calcifications. However, the spectrum of mu
Externí odkaz:
https://doaj.org/article/913198e46b85407c9673e7311c85c134
