Interdisciplinary management of FGF23-related phosphate wasting syndromes: a consensus statement on the evaluation, diagnosis and care of patients with X-linked …

A Trombetti, N Al-Daghri, ML Brandi… - Nature Reviews …, 2022 - nature.com
X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-
associated rickets of genetic origin and is associated with high levels of the phosphaturic …

Diagnosis and management of vitamin D dependent rickets

MA Levine - Frontiers in pediatrics, 2020 - frontiersin.org
The term “vitamin D dependent rickets” describes a group of genetic disorders that are
characterized by early-onset rickets due to the inability to maintain adequate concentrations …

Effect of burosumab compared with conventional therapy on younger vs older children with X-linked hypophosphatemia

LM Ward, FH Glorieux, MP Whyte… - The Journal of …, 2022 - academic.oup.com
Context Younger age at treatment onset with conventional therapy (phosphate salts and
active vitamin D; Pi/D) is associated with improved growth and skeletal outcomes in children …

[HTML][HTML] Challenges in the management of tumor-induced osteomalacia (TIO)

ML Brandi, GPR Clunie, P Houillier, SMJ de Beur… - Bone, 2021 - Elsevier
Abstract Tumor-induced osteomalacia (TIO), also known as oncogenic osteomalacia, is a
rare acquired paraneoplastic disease that is challenging to diagnose and treat. TIO is …

Osteomalacia is not a single disease

L Cianferotti - International Journal of Molecular Sciences, 2022 - mdpi.com
Among bone-material qualities, mineralization is pivotal in conferring stiffness and
toughness to the bone. Osteomalacia, a disease ensuing from inadequate mineralization of …

Consensus recommendations for the diagnosis and management of X-linked hypophosphatemia in Belgium

MR Laurent, J De Schepper, D Trouet… - Frontiers in …, 2021 - frontiersin.org
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic
rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated …

Approach to hypophosphatemic rickets

SA Ackah, EA Imel - The Journal of Clinical Endocrinology & …, 2023 - academic.oup.com
Hypophosphatemic rickets typically presents in infancy or early childhood with skeletal
deformities and growth plate abnormalities. The most common causes are genetic (such as …

Biological stenciling of mineralization in the skeleton: local enzymatic removal of inhibitors in the extracellular matrix

N Reznikov, B Hoac, DJ Buss, WN Addison… - Bone, 2020 - Elsevier
Biomineralization is remarkably diverse and provides myriad functions across many
organismal systems. Biomineralization processes typically produce hardened, hierarchically …

Diagnosis and management of tumor-induced osteomalacia: perspectives from clinical experience

K Dahir, MB Zanchetta, I Stanciu… - Journal of the …, 2021 - academic.oup.com
Purpose Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome of abnormal
phosphate and vitamin D metabolism caused by typically small endocrine tumors that …

Rickets in children: an update

C Gentile, F Chiarelli - Biomedicines, 2021 - mdpi.com
Rickets refers to a deficient mineralization of the growth plate cartilage, predominantly
affecting longer bones. Despite the fact that preventive measures are available, it is still a …