Results 111 to 120 of about 2,648 (201)

The International X-Linked Hypophosphatemia (XLH) Registry

X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive, renal phosphate-wasting disorder characterized by a pathological increase in FGF23 concentration and activity. Due to its rarity, diagnosis may be delayed, which can adversely affect outcomes. As a chronic disease resulting in progressive accumulation of musculoskeletal manifestations,
Ariceta Iraola, Gema||, Beck-Nielsen, Signe, Boot, Annemieke, Brandi, Maria Luisa||, Briot, Karine, de Lucas-Collantes, Carmen, Emma, Francesco||, Giannini, Sandro, Haffner, Dieter, Keen, Richard, Levtchenko, Elena, Mӓkitie, Outi, Mughal, M. Zulf, Nilsson, Ola, Schnabel, Dirk, Tripto-Shkolnik, Liana, Liu, Jonathan, Williams, Angela, Wood, Sue, Zillikens, M. Carola||   +19 more
openaire   +1 more source

Namenregister zu Band XLH und XLIII [PDF]

Archiv für Verdauungskrankheiten, 2009
openaire   +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

PRISMA Protocol for Scoping Review: Quality of Life in Adults with Hypophosphatemia (XLH)

Realização de uma revisão de escopo para mapear evidências científicas que abordem a participação social e qualidade de vida de pessoas adultas com hipofosfatemia (XLH) no mundo, com o propósito de compreender e discutir essa população de raros e ...
VANESSA GIOVANA VASQUES, Lyvia de Nazaré de Oliveira Barros, ANDREA PEROSA SAIGH JURDI, CAMILA MARIANI RICKLI   +3 more
core   +1 more source

Assistive technology in the daily lives of adults with x-linked hypophosphatemia (xlh)

A hipofosfatemia ligada ao X (XLH) é uma condição genética rara que afeta a saúde física e social de indivíduos. Este estudo teve como objetivo fazer um levantamento dos produtos assistivos utilizados no cotidiano de adultos com XLH e conhecer a ...
Szram, Maryana Helen [UNIFESP]
core  

Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry

International audienceX-linked hypophosphatemia (XLH) is a phosphate-wasting disorder caused by increased fibroblast growth factor 23 (FGF23); it leads to skeletal deformities, muscle weakness, and pain.
Sandilands, Kerry, Amouroux, Cyril, Harambat, Jerome, Ishii, Haruka, Williams, Angela, Linglart, Agnes, Bowden, Annabel, Salles, Jean-Pierre, Gueorguieva, Iva, Varni, James W, Bacchetta, Justine, Ertl, Diana-Alexandra, Linglart, Agn\ue8s, Rylands, Angela   +13 more
core   +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

Burosumab improves alkaline phosphatase and rickets severity in X-linked hypophosphatemia: 3-year SUNFLOWER analysis. [PDF]

Bone Rep
Ozono K, Kang HG, Namba N, Ito N, Kubota T, Shintani A, Kawai R, Miyazaki O, Kanematsu M, Ishii H, Michigami T.   +10 more
europepmc   +1 more source

Insight into Natural History and Phenotype in Untreated Adults with X-Linked Hypophosphatemia. [PDF]

Calcif Tissue Int
Baroncelli GI, Cetani F, Toschi B, Bulleri A, Isola A, Giuca MR, Carli E, Sessa MR, Pelosini C, Michelucci A, Comberiati P.   +10 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