Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
September 2017: Molecular Genetics and Metabolism