Carbonic anhydrase XIV: Luminal expression suggests key role in renal acidification.
Background Carbonic anhydrase (CA) plays a fundamental role in regulation of systemic …

Metabolic acidosis is associated with increased urinary calcium excretion and related
sequelae, including nephrocalcinosis and nephrolithiasis. The increased urinary calcium …

Red cell carbonic anhydrase isoenzyme activities (HCA-I and HCA-II) were quantitated in
blood hemolysates of two female siblings affected with autosomal recessive osteopetrosis in …

Acid and mineral balances and bone in familial proximal renal tubular acidosis. Background
Metabolic acidosis caused by increased rates of fixed acid production is associated with …

Three Japanese patients with carbonic anhydrase II (CAII) deficiency from three families
were described. The parents of one patient were unrelated, the parents of each of the other …

Genetic disorders of excessive salt loss from sweat glands have been observed in
pseudohypoaldosteronism type I (PHA) and cystic fibrosis that result from mutations in …

Two principal types of osteopetrosis have been distinguished. One is the dominantly
inherited, relatively benign condition which is often detected radiologically in asymptomatic …

Osteopetrosis is a rare hereditary illness generated by failure in osteoclasts resulting in
elevated bone densities. Patients with osteopetrosis possess several complications, like …

Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by
heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations …

The content of carbonic anhydrase isozymes I (CA I) and II (CA II) in red blood cells and
bone of osteopetrotic microphthalmic (mi mi) mice was analyzed. Monospecific rabbit …