Article
The Occurrence and Burden of Hypophosphatasia in an Ambulatory Care Endocrinology Practice.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Dec 2021
Quinn Hugh B, Busch Robert S, Kane Michael P
Abstract excerpt
OBJECTIVE: Hypophosphatasia (HPP) is an inherited disease resulting from loss-of-function mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase. The presentation and severity of the disease are highly variable, ranging from perinatal onset with high mortality rates to adult identification with low mortality rates and symptoms ranging from minimal to severe. Moderate forms of HPP typically...
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