Measurement of Tartrate-Resistant Acid Phosphatase and the Brain Isoenzyme of Creatine Kinase Accurately Diagnoses Type II Autosomal Dominant Osteopetrosis but Does Not Identify Gene Carriers

Abstract excerpt

Autosomal dominant osteopetrosis type II (ADO2) is typically diagnosed from radiographs, which demonstrate the pathognomonic findings of osteosclerosis and endobone formation. Individuals with ADO2 also have elevated serum levels of tartrate-resistant acid phosphatase (TRAP) and the BB isoenzyme of creatine kinase (CK-BB). In the current study, we tested the utility of these enzymes in making or refuting a...

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