Results 81 to 90 of about 1,327 (129)

Real-world effectiveness of burosumab across age groups: X-linked hypophosphatemia (XLH) Disease Monitoring Program.

J Clin Endocrinol Metab
Ward LM, Carpenter TO, Cassinelli H, Florenzano P, Imel EA, Khan AA, Johnson B, Yang E, Vincent M, Heerssen HM, Li Z, Simmons JH.   +11 more
europepmc   +1 more source

Noncanonical Splice Site Disruption: +4 Intronic Variant in Phosphate-Regulating Endopeptidase Homolog, X-linked (PHEX Gene) Supported by In Silico Analysis in X-linked Hypophosphatemic Rickets. [PDF]

Cureus
Panqueba Arias CF, Rojas Rodriguez IK, Quero RI, Baez CC.   +3 more
europepmc   +1 more source

Continuation of burosumab during pregnancy in a patient with X-linked hypophosphatemia. [PDF]

JCEM Case Rep
Suzuki A, Moriyama Y, Mizuno H, Nishizawa H.   +3 more
europepmc   +1 more source

Case Report: Deep intronic <i>PHEX</i> variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia. [PDF]

Front Endocrinol (Lausanne)
Spranger S, Faust H, Duffek P, Schubert S, Skladny H, Kovacs P, Tönjes A, Popp D.   +7 more
europepmc   +1 more source

Determinants of final height in X-linked hypophosphatemia: impact of diagnostic delay and baseline growth in a Brazilian cohort. [PDF]

Front Pediatr
Borghi M, Moreira JPB, da Silva LM.
europepmc   +1 more source

Reply to Çevik et al. Comment on "Inghilleri, G.; Franchini, M. Hypophosphatemia in Patients Receiving Intravenous Iron Supplementation for Iron-Deficiency Anemia: A Narrative Review. <i>J. Clin. Med.</i> 2026, <i>15</i>, 4748". [PDF]

J Clin Med
Inghilleri G, Franchini M.
europepmc   +1 more source

Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study. [PDF]

Calcif Tissue Int
Böckmann I, Klein M, Mutze H, Rehberg M, Spartà G, Evers K, Schlingmann KP, Kemper MJ, Richter-Unruh A, Schmidt D, Hiort O, Grohmann-Held K, Schröder C, Derichs U, Freiberg C, Weitz M, Dunstheimer D, Schmid E, John-Kroegel U, Metzing O, Heger S, Jorch N, Staude H, Patzer L, Wühl E, Partsch CJ, Hübner A, Marx M, Land C, Albers N, Banzer J, Baus I, Wilkening F, Möller K, Wagner V, Krauch G, Gessner M, Goischke A, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D, German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED).   +42 more
europepmc   +1 more source

X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant. [PDF]

Cureus
Larbi Ouassou K, Amale H, Abilkassem R.
europepmc   +1 more source