… In the human brain, CA II is localized to oligodendrocytes and choroid plexus epithelium. …
recessive syndrome featuring osteopetrosis, cerebral calcification, and renal tubular acidosis, …

… tulated a defect in carbonic anhydrase H (CA II), the only one of the three soluble isozymes
of carbonic anhydrase that is.known to be synthesized in kidney and brain. We report here …

… This similarity is obviously an important clue to the aetiology and significance of brain
calcification in carbonic anhydrase type II deficiency. In somewhat similar settings (Smeyers-…

… Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a … a
deficiency of carbonic anhydrase II, one of the isozymes of carbonic anhydrase, in three sisters …

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

… II (CA II) is one of 14 isozymes of carbonic anhydrases, zinc … renal tubular acidosis and
cerebral calcifications, a disorder often … of the pathogenesis of cerebral calcifications and mental …

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

… tubular acidosis and cerebral calcification. Additional features … Carbonic anhydrase II
deficiency was demonstrated in … 50% normal level of carbonic anhydrase II was demonstrated in …

… had no intracranial calcification. … acidosis and cerebral calcification in three Saudi Arabian
families. Dev Med Child … of osteopetrosis with renal tubular acidosis and cerebral calcification. …

… , renal tubular acidosis, and cerebral calcification. Other features include growth failure and
… the osteopetrosis or cerebral calcification. We review here the role of carbonic anhydrases in …