Carbonic anhydrase (CA) isoenzyme II deficiency—formerly called the syndrome of
osteopetrosis with renal tubular acidosis and cerebral calcification—is an autosomal …

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

Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a
recessively inherited syndrome in 1972. In 1983, we reported a deficiency of carbonic …

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

Carbonic anhydrase II (CA II) deficiency in man is an autosomal recessive disorder manifest
by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include …

CA II is one of seven human carbonic anhydrase (CA) isozymes and is expressed in the
cytoplasm of some cells of virtually every human organ. Deficiency of CA II results in a …

The clinical, radiological, and pathological findings in three siblings affected with the
autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral …

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 (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-
base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of …

Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include
osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of …