Results 61 to 70 of about 7,233,987 (192)

Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study

Biomedicines
Background: X-linked hypophosphatemia (XLH) is a rare disorder characterized by elevated levels of fibroblast growth factor 23 (FGF-23), leading to hypophosphatemia and complications in diagnosis due to its clinical heterogeneity.
Luis Carlos López-Romero, José Jesús Broseta, Marta Roca-Marugán, Noemí Máñez Ramírez, Julio Hernández-Jaras   +4 more
doaj   +1 more source

X‐linked hypophosphatemic rickets: Case report of late diagnosis and bone pain improvement with targeted treatment

Clinical Case Reports, 2022
X‐linked hypophosphatemia (XLH) is a rare disexase in which patients present with severe bowing of the legs, joint pain, and mobility problems. XLH has major adverse repercussions on the quality of life.
Marcia Janneth Bermeo Cabrera, Pablo Roberto Ordoñez Chacha, Alfredo Adolfo Reza‐Albarrán, Ana Karina Ordoñez Chacha, Marcy Acosta Acero, Agustin Rodas Serrano   +5 more
doaj   +1 more source

Assessing Clinical Severity and Prognosis in Adolescents With Anorexia Nervosa and Atypical Anorexia Nervosa Using the Albumin‐Globulin Ratio

European Eating Disorders Review, Volume 34, Issue 5, Page 1193-1208, September 2026.
ABSTRACT Objective The albumin‐globulin ratio (AGR) is a biochemical marker reflecting nutritional and inflammatory status, with significant prognostic value in chronic conditions. This study examined its association with clinical/biochemical markers in adolescents with anorexia nervosa (AN) and atypical AN (AAN).
Eylem Şerife Kalkan, Ayşe Bilge Baklaci, Yelda Kiliç, Sinem Akgül, Nilgün Özgül, Melis Pehlivanturk Kizilkan   +5 more
wiley   +1 more source

A multispecies approach for comparing sequence evolution of X-linked and autosomal sites in Drosophila [PDF]

, 2008
Population genetics models show that, under certain conditions, the X chromosome is expected to be under more efficient selection than the autosomes.
Vicoso, Beatriz, Haddrill, Penelope R, Charlesworth, Brian, Haddrill, Penelope R.   +3 more
core   +4 more sources

Burden of disease and clinical targets in adult patients with X-linked hypophosphatemia. A comprehensive review [PDF]

, 2021
X-linked hypophosphataemia (XLH) is a lifelong condition. Despite the mounting clinical evidence highlighting the long-term multi-organ sequelae of chronic phosphate wasting and consequent hypophosphatemia over the lifetime and the morbidities associated
Brandi, M L, Rendina, D, Lazzerini, D, Giannini, S, Bianchi, M L, Massoletti, P   +5 more
core   +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

Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review

HemaSphere, Volume 10, Issue 9, September 2026.
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Alexandros Makis, Ioanna Saougou, Eleftheria Hatzimichael   +2 more
wiley   +1 more source

Safety and Efficacy of Burosumab in Patients with X-linked Hypophosphatemia: A Systematic Review [PDF]

X-linked Hypophosphatemia (XLH) is a rare genetic disorder caused by a loss-of-function mutation in the PHEX (phosphate-regulating gene with homology to endopeptidases) gene.
Eisha, Duaa Amir
core   +5 more sources

Cardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia [PDF]

The Journal of Clinical Endocrinology & Metabolism, 1997
Treatment for X-linked hypophosphatemia (XLH; vitamin D metabolites and phosphate salts) may result in hypercalcemia, hypercalciuria, nephrocalcinosis, and hyperparathyroidism. Cardiovascular abnormalities occur in association with these complications, but have not been reported in XLH.
R, Nehgme, J T, Fahey, C, Smith, T O, Carpenter   +3 more
openaire   +2 more sources

Health-related quality of life of X-linked hypophosphatemia in Spain

Orphanet Journal of Rare Diseases, 2022
Plain English summary X-linked hypophosphatemia (XLH) is a severe inherited disease. It is caused by loss of phosphorus by kidneys. As a result, blood level of phosphorus is low, affectingX-linked hypophosphatemia (XLH) is a severe inherited disease.
M. I. Luis Yanes, M. Diaz-Curiel, P. Peris, C. Vicente, S. Marin, M. Ramon-Krauel, J. Hernandez, J. J. Broseta, L. Espinosa, S. Mendizabal, L. Perez-Sukia, V. Martínez, C. Palazón, J. A. Piñero, M. A. Calleja, J. Espin, R. Arborio-Pinel, G. Ariceta   +17 more
doaj   +1 more source