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Article

ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.

The Journal of clinical endocrinology and metabolism - 19 Apr 2022

Marini Francesca, Masi Laura, Giusti Francesca, Cianferotti Luisella, Cioppi Federica, Marcucci Gemma, Ciuffi Simone, Biver Emmanuel, Toro Giuseppe, Iolascon Giovanni, Iantomasi Teresa, Brandi Maria Luisa

Abstract excerpt

CONTEXT: Hypophosphatasia (HPP) is a rare metabolic disorder caused by deficiency of alkaline phosphatase (ALP) enzyme activity, leading to defective mineralization, due to pathogenic variants of the ALPL gene, encoding the tissue nonspecific alkaline phosphatase (TNSALP) enzyme. Inheritance can be autosomal recessive or autosomal dominant. An abnormal ALPL genetic test enables accurate diagnosis, avoiding the...

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PMID: 34935951
DOI: 10.1210/clinem/dgab914

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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