Functional, biochemical and genetic studies have over the past decade identified many
causative genes in the osteoclast diseases osteopetrosis and Paget's disease of bone …

Intracranial calcification (ICC) is a common finding on neuroimaging in paediatric neurology
practice. In approximately half of all cases the calcification occurs in damaged, neoplastic, or …

We report four patients with methylmalonic acidemia who developed acute extrapyramidal
disease after metabolic decompensation. The neurologic findings resulted from bilateral …

Abstract Carbonic anhydrase II (CA II) is one of 14 isozymes of carbonic anhydrases, zinc
metalloenzymes that catalyze the reversible hydration of carbon dioxide to bicarbonate …

✓ Osteopetrosis is a rare disorder characterized by generalized increased skeletal density
with abnormalities of bone modeling. The skull base is usually involved. Loss of vision with …

Carbonic anhydrase type II deficiency syndrome is an uncommon autosomal recessive
disease with cardinal features including osteopetrosis, renal tubular acidosis and brain …

This article is the second of a two-part series on intracranial calcification in childhood. In Part
1, the authors discussed the main differences between physiological and pathological …

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 results from diminished osteoclast action. Defective skeletal resorption is
revealed by the persistence of primary spongiosa deposited during endochondral bone …

Endocrinologists may be challenged not only by the great diversity of rare heritable
metabolic bone diseases, but also by an unusual array of genetically transmitted skeletal …