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

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 …

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 …

Four new Saudi Arabian cases of the carbonic anhydrase II deficiency syndrome from two
families are described. This autosomal recessive syndrome includes osteopetrosis with …

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 …

Abstract Felix R, Hofstetter W, Cecchini MG. Recent developments in the understanding of
the pathophysiology of osteopetrosis. Eur J Endocrinol 1996; 134: 143–56. ISSN 0804 …

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 …

Three adult sisters with osteopetrosis in infancy had spontaneous resolution of bone
modeling defects and osteosclerosis. During adolescence, basal ganglia calcification …

Electrophoretic screening of (C57BL/6J x DBA/2J) F1 progeny of male mice treated with N-
ethyl-N-nitrosourea revealed a mouse that lacked the paternal carbonic anhydrase II (CA II) …