Results 71 to 80 of about 4,164 (178)

Burosumab prevents further height deficit in toddlers affected by XLH

Endocrine Connections
Background: X-linked hypophosphatemia (XLH) is a rare disease caused by PHEX variants. Besides rickets, XLH leads to disproportionately short stature, which develops during the first months of life.
Elisa Sala, Jugurtha Berkenou, Anya Rothenbuhler, Anne-Sophie Lambert, Christelle Audrain, Barbara Girerd, Marco Pitea, Stefano Mora, Agnès Linglart, Diana-Alexandra Ertl   +9 more
doaj   +1 more source

Hypophosphataemia following iron infusion: a narrative review of an increasingly recognised complication

Internal Medicine Journal, Volume 56, Issue 9, Page 1500-1509, September 2026.
Abstract Parenteral iron is widely prescribed by medical practitioners, with more than 600 000 outpatient prescriptions dispensed in 2025 through the Australian Pharmaceutical Benefits Scheme. While intravenous iron has transformed the management of iron deficiency, hypophosphataemia is now recognised as a common complication, with incidences reported ...
Brenda Ta, Stephanie Baddock, Jane Ludington, Angela Sheu   +3 more
wiley   +1 more source

Structure and Function of Disease-Causing Missense Mutations in the PHEX Gene [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2003
The PHEX gene that is mutated in patients with X-linked hypophosphatemia (XLH) encodes a protein homologous to the M13 family of zinc metallopeptidases. The present study was undertaken to assess the impact of nine PHEX missense mutations on cellular trafficking, endopeptidase activity, and protein conformation.
Yves, Sabbagh, Guy, Boileau, Marcelo, Campos, Adriana K, Carmona, Harriet S, Tenenhouse   +4 more
openaire   +2 more sources

X-linked hypophosphatemic rickets: Case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2014
Introduction. X-linked hypophosphatemic rickets (XLHR) is a dominant inherited disease caused by isolated renal phosphate wasting and impairment of vitamin D activation.
Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Leković Zoran, Ristić Dragana, Dučić Siniša, Pavićević Polina   +6 more
doaj   +1 more source

Protein and Peptide Inhibitors of Mineralization: A Systematic Review of In Vitro Studies

Journal of Peptide Science, Volume 32, Issue 7, July 2026.
In vitro evidence from crystallization assays demonstrates that peptides inhibit mineral nucleation and crystal growth through sequence‐dependent interactions (acidic residues and phosphorylation) with mineral surfaces. In cell cultures, these molecules reduce calcium deposition and ALP activity and modulate the expression of biomineralization‐related ...
Alberto Mimila‐Cortes, Lucia Méndez‐Sánchez, Luis Fernando Ramírez‐González, Lia Hoz‐Rodríguez, Maricela Santana‐Vázquez, Karen Ivette Castro‐López, Higinio Arzate, Gonzalo Montoya‐Ayala   +7 more
wiley   +1 more source

Hypophosphatemic Rickets in Patients from Bichoric Biamniotic Twins: A Case Report

Педиатрическая фармакология
Background. X-linked dominant hypophosphatemic rickets (X-linked hypophosphatemia, XLH) is a disease caused by mutations in the PHEX gene (located at the Xp22.1 locus), which encodes an enzyme bound to the cell surface that cleaves the protein phosphate ...
Anna S. Nechaeva, Emma S. Grigoryan, Tatyana V. Turti, Tatiana E. Privalova, Nato D. Vashakmadze, Nina A. Krasnoshchekova   +5 more
doaj   +1 more source

Spatial metabolomics reveals upregulation of several pyrophosphate-producing pathways in cortical bone of Hyp mice

JCI Insight, 2022
Patients with the renal phosphate–wasting disease X-linked hypophosphatemia (XLH) and Hyp mice, the murine homolog of XLH, are characterized by loss-of-function mutations in phosphate-regulating endopeptidase homolog X-linked (PHEX), leading to excessive
Achim Buck, Verena M. Prade, Thomas Kunzke, Reinhold G. Erben, Axel Walch   +4 more
doaj   +1 more source

Mammalian Osteoderm Ultrastructure in the Armored Acomys Spiny Mouse Tail

Small, Volume 22, Issue 40, 17 July 2026.
The ultrastructure of armored platelets – termed osteoderms – in the tail skin of Acomys cahirinus spiny mice is characterized using 2D and 3D microscopy methods. The imbricated structure is composed of calcium phosphate biomineral and has select structural elements that are bone‐like and tooth‐like in nature.
Joseph Deering, Malcolm Maden, Marc D. McKee   +2 more
wiley   +1 more source

Co‐Production of Mycoprotein, Carotenoids, and B Vitamins From Cheese Whey by Neurospora intermedia

Journal of Food Science, Volume 91, Issue 7, July 2026.
ABSTRACT Cheese whey, a nutrient‐rich dairy byproduct that requires management due to its high organic load, was valorized using an integrated biorefinery platform with the edible fungus Neurospora intermedia to simultaneously produce mycoprotein, carotenoids, and B vitamins (B1, B2, B3, B6).
Farzaneh Dianatdar, Zahra Etemadifar, Mohammad J. Taherzadeh   +2 more
wiley   +1 more source

5105 Characterization Of Novel PHEX Variants In X-Linked Hypophosphatemic Rickets And Genotype-PHEX Activity Correlation

Journal of the Endocrine Society
Abstract Disclosure: H. Wu: None. W. Zhao: None. X. Chen: None. L. Gao: None. C. Xu: None. J. Zhao: None. X-linked hypophosphatemia (XLHR) is the most common genetic form of hypophosphatemic rickets (HR), which is caused by mutations in the phosphate regulating endopeptidase homolog X-linked (PHEX) gene.
Wu, Huixiao, Zhao, Wanyi, Chen, Xinyu, Gao, Ling, Xu, Chao, Zhao, Jiajun   +5 more
openaire   +1 more source