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 …

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 …

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 has been shown to be the primary defect in the
recessively inherited syndrome of osteopetrosis with renal tubular acidosis. Until now, the …

Deficiency of carbonic anhydrase II (carbonate hydro-lyase, EC 4.2. 1.1) is the primary
defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification. In …

Carbonic anhydrase II (CA II) is the only soluble isozyme of CA which is known to be
expressed in kidney. We recently identified a deficiency of this enzyme as the basis for the …

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

Renal tubular acidosis with osteopetrosis is an autosomal recessive disorder due to
deficiency of carbonic anhydrase II (CAII). A 3.5-year-old Egyptian boy with osteopetrosis …

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