Carbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive
sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We …

Carbonic anhydrase (CA) II deficiency is characterized by osteopetrosis, renal tubular
acidosis, cerebral calcification, and usually severe mental retardation. We describe an …

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder
that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features …

Carbonic anhydrase II (CA II) deficiency is an extremely rare autosomal recessive disorder,
characterised by a triad of osteopetrosis, renal tubular acidosis and cerebral calcifications. A …

Carbonic Anhydrase II Deficiency: A Rare Autosomal Recessive... : Journal of Pediatric
Hematology/Oncology Carbonic Anhydrase II Deficiency: A Rare Autosomal Recessive …

Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral
calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal) …

Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral
calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal) …

Deficiency of carbonic anhydrase II (CA II) isoenzyme produces metabolic disorders of bone,
kidney and brain. In this report we describe the clinical, radiological, pathological and …

Carbonic anhydrase II (CAII) deficiency is an autosomal recessive disorder characterized by
renal tubular acidosis, osteopetrosis, recurrent bone fractures, renal stones, growth failure …

Carbonic anhydrase II (CA2) deficiency syndrome is an autosomal recessive disorder
leading to osteopetrosis, renal tubular acidosis, and cerebral calcifications. Affected …