Results 121 to 130 of about 2,648 (201)

The international X-linked hypophosphataemia (XLH) registry (NCT03193476)

X-linked hypophosphataemia (XLH) is a rare, hereditary, progressive and lifelong phosphate wasting disorder characterised by pathological elevations in fibroblast growth factor (FGF) 23 concentration and activity; XLH has an incidence of approximately 1 in 20-25,000 individuals.
Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta Iraola, Gema||, Schnabel, Dirk, Brandi, Maria Luisa||, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi||, Mughal, Zulf   +11 more
openaire   +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

Burosumab as bridging therapy in autosomal dominant hypophosphatemic rickets with femoral fracture nonunion and iron deficiency. [PDF]

JBMR Plus
Rakusa M, Kocjan T.
europepmc   +1 more source

Health-related quality of life (HRQL) in paediatric patients with X-linked hypophosphatemia (XLH) in France: analysis of observational real-world registry data

International audienceBackground: X-linked hypophosphatemia (XLH) is a rare, progressive, phosphate-wasting disorder that compromises skeletal development in childhood.
Nixon, A., Rylands, A., Linglart, A., Ishii, H., Salles, J. P., Williams, A., Gueorguieva, I., Amouroux, C., Harambat, Jerome, Bacchetta, J., Sandilands, K., Dent, J.   +11 more
core   +1 more source

Correction: Transition Care for Young People with Rare Bone and Mineral Conditions: A Scoping Review. [PDF]

Adv Ther
Coutinho S, Jensen LS, Gamage TH, Hestnes TM, Appelmann-Dijkstra NM, Bazzocchi A, Cohen-Solal M, Crowley RK, Eekhoff EMW, Großmann N, la Forgia MC, Travessa A, Mantovani G, Masi L, Micha D, Oheim R, Sylvest TT, Trisolino G, Winter EM, Horn J, Wekre LL.   +20 more
europepmc   +1 more source

Burosumab for X-linked Hypophosphataemia and Tumour-induced Osteomalacia in Adults. [PDF]

touchREV Endocrinol
Black S, Keen R, Bubbear J.
europepmc   +1 more source

Real-world impact of treatment on growth in children with X-linked hypophosphatemia.

J Clin Endocrinol Metab
Fukumoto S, Haffner D, Imel EA, Ozono K, Brandi ML, Ishii H, Li Z, Sandilands K, Joos-Vandewalle P, Lee C, Kanematsu M, McCullough KP, Carpenter TO.   +12 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

Correction to: Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry. [PDF]

JBMR Plus
europepmc   +1 more source