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Review Articles from PubMed
Hypophosphatasia is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity. The prognosis for the infantile form is poor, with approximately 50% of patients dying within the first year ...
Subcutaneous asfotase alfa (Strensiq™), a first-in-class bone-targeted human recombinant tissue-nonspecific alkaline phosphatase (TNSALP) replacement therapy, is approved in the USA for the treatment of patients with perinatal/infantile- or juvenile-onset hypophosphatasia (HPP). ...
To determine the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP) defect underlying transiently reversible and variably lethal infantile hypophosphatasia (HPP) in a kindred and to characterize HPP prevalence in black people.
Editorials from PubMed
Research Articles from PubMed
Hypophosphatasia (HPP) is a hereditary musculoskeletal disorder characterized by low serum alkaline phosphatase (ALP) activity leading to poor bone mineralization. On a micro-morphological level, this may not only be reflected by an enrichment of osteoid but also a degradation of ...
To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia.