Carbonic Anhydrase II Deficiency: Unusual Presentation of the Arabic Mutation. A Case Report
Carbonic anhydrase II deficiency is an extremely rare inborn error of metabolism that constitutes a triad osteopetrosis, renal tubular acidosis and intracerebral calcification. Unlike other subtypes of osteopetrosis, the presence of developmental delay and relative infrequency of skeletal fractures...
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SAGE Publishing,
2024-02-01T00:00:00Z.
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