Article
The diagnosis of hypophosphatasia in children as a multidisciplinary effort: an expert opinion.
Journal of endocrinological investigation - 1 Mar 2024
Baroncelli G I, Carlucci G, Freri E, Giuca M R, Guarnieri V, Navarra G, Toschi B, Mora S
Abstract excerpt
Hypophosphatasia (HPP) is a rare genetic disorder in which pathogenic variants of the ALPL gene lead to a marked decrease of tissue non-specific alkaline phosphatase (TNSALP) activity. Although HPP is a systemic disorder, its clinical manifestations are more evident on bones, teeth, muscle and central nervous system. The clinical spectrum ranges from severe forms with extreme skeletal deformities, respiratory...
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