Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Del Fattore, A

Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. [electronic resource] - Journal of medical genetics Apr 2006 - 315-25 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1468-6244

10.1136/jmg.2005.036673 doi


Adolescent
Adult
Alkaline Phosphatase--blood
Bone Resorption--metabolism
Child
Child, Preschool
Chloride Channels--chemistry
Female
Genotype
Humans
Hydrogen-Ion Concentration
Male
Osteocalcin--blood
Osteoclasts--pathology
Osteopetrosis--diagnosis
Phosphoric Monoester Hydrolases--blood
Sodium-Hydrogen Exchangers--physiology
Vacuolar Proton-Translocating ATPases--genetics