Results 1 to 10 of about 315,496 (213)

Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone

Orphanet Journal of Rare Diseases, 2022
Background X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol.
Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler, Agnès Linglart   +11 more
doaj   +1 more source

Abdominal Visceral Adipose Tissue and All-Cause Mortality: A Systematic Review

Frontiers in Endocrinology, 2022
IntroductionIncreased abdominal visceral adipose tissue (VAT) implies an adverse cardio-metabolic profile. We examined the association of abdominal VAT parameters and all-cause mortality risk.MethodsWe systematically searched four databases. We performed
Randa K. Saad, Randa K. Saad, Malak Ghezzawi, Renee Horanieh, Assem M. Khamis, Katherine H. Saunders, John A. Batsis, Marlene Chakhtoura, Marlene Chakhtoura   +8 more
doaj   +1 more source

Genetic Disorders of Calcium and Phosphorus Metabolism

Endocrines, 2022
In this review, we describe genetic mutations affecting metabolic pathways of calcium and phosphorus homeostasis. Calcium and phosphorus homeostasis has tight hormonal regulation by three major hormones: vitamin D, parathyroid hormone (PTH) and ...
Assia Miller, Serina Mathew, Sneha Patel, Lawrence Fordjour, Vivian L. Chin   +4 more
doaj   +1 more source

Development of Enthesopathies and Joint Structural Damage in a Murine Model of X-Linked Hypophosphatemia

Frontiers in Cell and Developmental Biology, 2020
X-linked hypophosphatemia (XLH) is characterized by rickets and osteomalacia, caused by inactivating mutations in the Phosphate-regulating endopeptidase homolog X-linked (PHEX) gene.
Carole-Anne Faraji-Bellée, Axelle Cauliez, Benjamin Salmon, Benjamin Salmon, Olivier Fogel, Volha Zhukouskaya, Volha Zhukouskaya, Aurélie Benoit, Thorsten Schinke, Christian Roux, Agnès Linglart, Agnès Linglart, Agnès Linglart, Corinne Miceli-Richard, Catherine Chaussain, Catherine Chaussain, Catherine Chaussain, Karine Briot, Karine Briot, Claire Bardet   +19 more
doaj   +1 more source

The role of calcium metabolism disorders in induction of hypersensitivity in cardiovascular diseases

Бюллетень сибирской медицины, 2021
Impairment of extracellular and intracellular calcium homeostasis can have a damaging effect on the functioning of both individual organs and systems and the whole organism.
N. S. Deeva, A. V. Shabaldin, L. V. Antonova   +2 more
doaj   +1 more source

Increased prevalence of overweight and obesity in children with X-linked hypophosphatemia

Endocrine Connections, 2020
Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between h ypophosphatemia and obesity in general population. The aim of our longitudinal observational study was
Volha V Zhukouskaya, Anya Rothenbuhler, Annamaria Colao, Carolina Di Somma, Peter Kamenický, Séverine Trabado, Dominique Prié, Christelle Audrain, Anna Barosi, Christèle Kyheng, Anne-Sophie Lambert, Agnès Linglart   +11 more
doaj   +1 more source

Research Models for Studying Vascular Calcification [PDF]

, 2020
Calcification of the vessel wall contributes to high cardiovascular morbidity and mortality. Vascular calcification (VC) is a systemic disease with multifaceted contributing and inhibiting factors in an actively regulated process.
Babic, Milen, Giet, Markus van der, Herrmann, Jaqueline, Schuchardt, Mirjam, Tölle, Markus   +4 more
core   +1 more source

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations [PDF]

, 2015
open9noDent disease (DD) is a rare X-linked recessive renal tubulopathy characterised by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis and/or nephrolithiasis. DD is caused by mutations in both the CLCN5 and OCRL genes.
Angela D’Angelo, Daniela Cremasco, Dorella Del Prete, Enrica Tosetto, Franca Anglani, Luciana Bonfante, Luisa Maria Bertizzolo, Maria Antonietta Addis, Monica Ceol, null null   +9 more
core   +2 more sources

Vitamin D in the Middle East and North Africa

Bone Reports, 2018
Purpose: The Middle East and North Africa (MENA) region registers some of the lowest serum 25‑hydroxyvitamin D [25(OH)D] concentrations, worldwide. We describe the prevalence and the risk factors for hypovitaminosis D, completed and ongoing clinical ...
Marlene Chakhtoura, Maya Rahme, Nariman Chamoun, Ghada El-Hajj Fuleihan   +3 more
doaj   +1 more source

Vitamin D, a modulator of musculoskeletal health in chronic kidney disease [PDF]

, 2017
The spectrum of activity of vitamin D goes beyond calcium and bone homeostasis, and growing evidence suggests that vitamin D contributes to maintain musculoskeletal health in healthy subjects as well as in patients with chronic kidney disease (CKD ...
Jordi Bover, Juan J. Carrero, null null, Pablo Molina, Pablo Ureña Torres, Philippe Chauveau, Sandro Mazzaferro   +6 more
core   +2 more sources