Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures

P Peris, E González Roca… - Journal of Bone and …, 2019 - academic.oup.com
Atypical femoral fractures (AFFs) are uncommon and often related to prolonged
bisphosphonate (BP) treatment. Isolated cases have been linked to mutations of tissue …

Functional characterization of a GGPPS variant identified in atypical femoral fracture patients and delineation of the role of GGPPS in bone‐relevant cell types

N Roca‐Ayats, PY Ng, N Garcia‐Giralt… - Journal of Bone and …, 2018 - academic.oup.com
Atypical femoral fractures (AFFs) are a rare but potentially devastating event, often but not
always linked to bisphosphonate (BP) therapy. The pathogenic mechanisms underlying …

Functional Analyses of Four CYP1A1 Missense Mutations Present in Patients with Atypical Femoral Fractures

N Ugartondo, N Martínez-Gil, M Esteve… - International Journal of …, 2021 - mdpi.com
Osteoporosis is the most common metabolic bone disorder and nitrogen-containing
bisphosphonates (BP) are a first line treatment for it. Yet, atypical femoral fractures (AFF), a …

Hypophosphatasia and the risk of atypical femur fractures: a case–control study

T Bhattacharyya, S Jha, H Wang, DL Kastner… - BMC musculoskeletal …, 2016 - Springer
Background Case reports have linked adult hypophosphatasia as a possible cause of
atypical femur fractures (AFF) associated with bisphosphonate use. Adult hypophosphatasia …

Prevalence of low serum alkaline phosphatase and Hypophosphatasia in adult patients with atypical Femur fractures

E Tsiantouli, E Biver, T Chevalley, R Petrovic… - Calcified Tissue …, 2022 - Springer
Hypophosphatasia (HPP) is a rare genetic disorder characterized by low serum alkaline
phosphatase (ALP), its manifestations may include atypical femoral fractures (AFF) …

The genetics of atypical femur fractures—a systematic review

W Zhou, JGJ van Rooij, PR Ebeling… - Current osteoporosis …, 2021 - Springer
Abstract Purpose of Review Atypical femur fractures (AFFs) are rare subtrochanteric or
diaphyseal fractures regarded as side effects of bisphosphonates (BPs), possibly with a …

Genetic risk factors for atypical femoral fractures (AFFs): a systematic review

HH Nguyen, DM van de Laarschot… - Journal of Bone and …, 2018 - academic.oup.com
Atypical femoral fractures (AFFs) are uncommon and have been associated particularly with
long term antiresorptive therapy, including bisphosphonates. Although the pathogenesis of …

High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

Á Del Real, R Cruz, C Sañudo… - International Journal of …, 2024 - mdpi.com
This study explores the genetic factors associated with atypical femoral fractures (AFF), rare
fractures associated with prolonged anti-resorptive therapy. AFF are fragility fractures that …

Gene network of susceptibility to atypical femoral fractures related to bisphosphonate treatment

N Garcia-Giralt, N Roca-Ayats, JF Abril, N Martinez-Gil… - Genes, 2022 - mdpi.com
Atypical femoral fractures (AFF) are rare fragility fractures in the subtrocantheric or diaphysis
femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of …

A genome-wide association study of bisphosphonate-associated atypical femoral fracture

M Kharazmi, K Michaëlsson, J Schilcher… - Calcified Tissue …, 2019 - Springer
Atypical femoral fracture is a well-documented adverse reaction to bisphosphonates. It is
strongly related to duration of bisphosphonate use, and the risk declines rapidly after drug …