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Article

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 2011

Wenkert Deborah, McAlister William H, Coburn Stephen P, Zerega Janice A, Ryan Lawrence M, Ericson Karen L, Hersh Joseph H, Mumm Steven, Whyte Michael P

Abstract excerpt

Hypophosphatasia (HPP) is caused by deactivating mutation(s) within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Patients manifest rickets or osteomalacia and dental disease ranging from absence of skeletal mineralization in utero to only loss of adult...

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Identifiers

PMID: 21713987
DOI: 10.1002/jbmr.454

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21713987-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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