Four children in three unrelated families (one consanguineous) presented with lethargy,
hyperlactatemia, and hyperammonemia of unexplained origin during the neonatal period …

Calvaria from newborn rats were used to localize carbonic anhydrase isoenzymes in bone
tissue. Highly sensitive peroxidase-antiperoxidase method revealed strong reaction of high …

Carbonic anhydrase (CA) is an important enzyme in the kidney and facilitates renal
acidification by catalvzing the reversible hydration of CO2 and the dehydration of …

A null allele at the mouse Car 2 locus was induced by ethylnitrosurea; mice homozygous for
the new allele lack the carbonic anhydrase (CA)-II isoenzyme. The expression of this genetic …

Carbonic anhydrase (CA) facilitates renal bicarbonate reabsorption and acid excretion.
Cytosolic CA II catalyzes the buffering of intracellular hydroxyl ions by CO2, whereas …

EK, a girl aged thirty-two months at the tune of decease, was observed at The Children's.
flospital for the last t% Velity months of her life. The family history was negative for …

Creatine kinase (CK) isoenzyme BB‐CK is predominantly found in brain and is not normally
detected in the blood. A few recent reports, however, have described BB‐CK in serum from …

We have investigated, in the genomic DNA of ten Tunisian patients, the presence of a splice
junction mutation at the 5′ end of intron 2 in the carbonic anhydrase II gene (CAII) …

Osteopetroses are rare human genetic disorders due to markedly decreased bone
resorption. To date, the only gene whose inactivation was known to be responsible for …

The osteopetroses are caused by reduced activity of osteoclasts which results in defective
remodelling of bone and increased bone density. They range from a devastating …