This review of the mechanism of osteopetrosis incriminates molecular defects in osteoclasts
as the cause of the imbalance between bone formation by osteoblasts and bone resorption …

Bone is a dynamic organ constantly remodeled to support calcium homeostasis and
structural needs. The osteoclast is the cell responsible for removing both the organic and …

For the past two decades, hematopoietic cell transplantation (HCT) has been used as
effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) …

Renal acid-base balance may become deranged in a number of ways, some of which are
the consequence of inherited disorders. Two main groups of distal renal acidopathies result …

Third generation biomaterials are being designed with the aim that once implanted they will
help the body to heal itself. One desirable characteristic of these materials in bone is their …

Duchenne muscular dystrophy (DMD) is a severe progressive muscle-wasting disorder
caused by mutations in the dystrophin gene. Studies have shown that bone marrow cells …

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 …

▪ Abstract Genetic disorders of acid-base transporters involve plasmalemmal and organellar
transporters of H+, HCO3−, and Cl−. Autosomal-dominant and-recessive forms of distal …

Topiramate is licensed for the treatment of epilepsy and for migraine prophylaxis, but is also
used off‐licence for a wide range of indications. With the increasing use of topiramate …

There is widespread interest in the use of bone marrow stromal cells (BMSC) for tissue
reconstruction and repair and for gene therapy. BMSC represent the differentiated progeny …