Early-onset osteoporosis
O Mäkitie, MC Zillikens - Calcified tissue international, 2022 - Springer
Osteoporosis is a skeletal disorder with enhanced bone fragility, usually affecting the elderly.
It is very rare in children and young adults and the definition is not only based on a low BMD …
It is very rare in children and young adults and the definition is not only based on a low BMD …
Functional validation of osteoporosis genetic findings using small fish models
The advancement of human genomics has revolutionized our understanding of the genetic
architecture of many skeletal diseases, including osteoporosis. However, interpreting results …
architecture of many skeletal diseases, including osteoporosis. However, interpreting results …
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis
Osteoporosis in premenopausal women with intact gonadal function and no known
secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with IOP …
secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with IOP …
[HTML][HTML] Where is bone science taking us?
BL Langdahl, AG Uitterlinden, SH Ralston - Best Practice & Research …, 2022 - Elsevier
Bone science has over the last decades unraveled many important pathways in bone and
mineral metabolism and the interplay between genetic factors and the environment. Some of …
mineral metabolism and the interplay between genetic factors and the environment. Some of …
Asian ethnicity and femoral geometry in atypical femur fractures: independent or interdependent risk factors?
ND Dhanekula, G Crouch, K Byth… - Journal of Bone and …, 2022 - academic.oup.com
The earliest reports of atypical femur fractures (AFF) emerged from Asia. In the West,
epidemiologic studies report a greater incidence of AFFs among subjects of Asian …
epidemiologic studies report a greater incidence of AFFs among subjects of Asian …
Whole exome sequencing in two Southeast Asian families with atypical femur fractures
Atypical femur fractures (AFFs) are rare complications of anti resorptive therapy. Devastating
to the affected individual, they pose a public health concern because of reduced uptake of …
to the affected individual, they pose a public health concern because of reduced uptake of …
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 …
femoral region associated with long-term bisphosphonate (BP) treatment. The etiology of …
The contribution of deleterious rare alleles in ENPP1 and osteomalacia causative genes to atypical femoral fracture
H Furukawa, S Oka, N Kondo… - The Journal of …, 2022 - academic.oup.com
Abstract Context Atypical femoral fractures (AFFs) are very rare atraumatic or mild trauma
fractures in the subtrochanteric region or femoral shaft. Some unique genetic variants in …
fractures in the subtrochanteric region or femoral shaft. Some unique genetic variants in …
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) …
phosphatase (ALP), its manifestations may include atypical femoral fractures (AFF) …
ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia
Context Hypophosphatasia (HPP) is a rare metabolic disorder caused by deficiency of
alkaline phosphatase (ALP) enzyme activity, leading to defective mineralization, due to …
alkaline phosphatase (ALP) enzyme activity, leading to defective mineralization, due to …