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Article

Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

Journal of bone and mineral metabolism - 1 Jul 2021

İnci Aslı, Ergin Filiz Başak Cengiz, Yüce Burcu Topcu, Çiftçi Bahattin, Demir Ercan, Buyan Necla, Okur İlyas, Biberoğlu Gürsel, Öktem Rıdvan Murat, Tümer Leyla, Ezgü Fatih Süheyl

Abstract excerpt

INTRODUCTION: Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical manifestations range from extreme life-threatening lethal forms to no signs or symptoms at all. MATERIALS AND METHODS: Consecutive 30,000 outpatients and inpatients with ALP data were screened retrospectively, out of which 1000 patients were found to have...

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PMID: 33404770
DOI: 10.1007/s00774-020-01193-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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