Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p36 | (1) | ICCBH2019

ALPL gene mutation in a family

Vai Silvia , Broggi Francesca , Luisa Bianchi Maria , Ponti Emanuela , Mihalich Alessandra , Maria Di Blasio Anna

Introduction: The clinical diagnosis of mild forms of hypophosphatasia [HPP], a rare genetic bone disease, is often made in adulthood, on the basis of persistently low serum levels of alkaline phosphatase [ALP], often coupled with signs of poor bone/teeth mineralization.Case report: A 50-year-old male on treatment with vitamin D supplementation because of osteoporosis of lumbar spine (T-score –3.2) and femoral neck (T-score –2.4), was referred ...