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Article

Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA - 1 Dec 2021

Masi L, Marini F, Franceschelli F, Leoncini G, Cianferotti L, Cioppi F, Giusti F, Marcucci G, Gronchi G, Brandi M L

Abstract excerpt

We analyzed polymorphism of the ALPL gene in patients with low serum levels of tissue-nonspecific alkaline phosphatase (TNAP). The presence of three or more of the less frequent alleles of ALPL polymorphisms was associated with significantly lower TNAP serum level and higher frequencies of metatarsal fractures, which may help confirm a clinical suspicion of adult hypophosphatasia. INTRODUCTION: Alkaline...

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Identifiers

PMID: 34097127
DOI: 10.1007/s00198-021-05893-8
PMCID: PMC8608776

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