Results 151 to 160 of about 7,233,987 (192)

X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.

J Clin Endocrinol Metab
Khan AA, Ali DS, Appelman-Dijkstra NM, Carpenter TO, Chaussain C, Imel EA, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Cohen-Solal M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Ward LM, Guyatt G, Brandi ML.   +43 more
europepmc   +1 more source

X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline.

J Clin Endocrinol Metab
Ali DS, Carpenter TO, Imel EA, Ward LM, Appelman-Dijkstra NM, Chaussain C, Jan de Beur SM, Florenzano P, Abu Alrob H, Aldabagh R, Alexander RT, Alsarraf F, Beck-Nielsen SS, Biosse-Duplan M, Crowley RK, Dandurand K, Filler G, Friedlander L, Fukumoto S, Gagnon C, Goodyer P, Grasemann C, Grimbly C, Hussein S, Javaid MK, Khan S, Khan A, Lehman A, Lems WF, Lewiecki EM, McDonnell C, Mirza RD, Morgante E, Morrison A, Portale AA, Rao C, Rhee Y, Rush ET, Siggelkow H, Tetradis S, Tosi L, Guyatt G, Brandi ML, Khan AA.   +43 more
europepmc   +1 more source

Burosumab Therapy in Children with X-Linked Hypophosphatemia [PDF]

New England Journal of Medicine, 2018
BACKGROUNDX-linked hypophosphatemia is characterized by increased secretion of fibroblast growth factor 23 (FGF-23), which leads to hypophosphatemia and consequently rickets, osteomalacia, and skeletal deformities. We investigated burosumab, a monoclonal
Annemieke M Boot, Raja Padidela, Alison Skrinar   +2 more
exaly   +6 more sources

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X-Linked Hypophosphatemia

Journal of the Osteopathic Family Physicians of California, 2023
Linked Hypophosphatemia (XLH) is a genetic disorder that affects the bones and teeth, primarily characterized by low levels of phosphate in the blood. XLH is a rare disorder but is considered the most common inherited form of rickets. The clinical presentation of XLH varies widely with the most common symptoms of XLH being short stature, bowing of the ...
Steven Barag, Ajith Raja, Jennifer Shieh
openaire   +1 more source

X-Linked Hypophosphatemia: A New Era in Management. [PDF]

Journal of the Endocrine Society, 2020
Abstract X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked ...
Jill H. Simmons, Kathryn M Dahir
exaly   +3 more sources

Impaired mineral quality in dentin in X-linked hypophosphatemia

Connective Tissue Research, 2018
International audienceX-linked hypophosphatemia (XLH) is a skeletal disorder arising from mutations in the PHEX gene, transmitted in most cases as an X-linked dominant trait.
Marc D McKee, Claire Bardet, Catherine Chaussain   +2 more
exaly   +2 more sources

Orthopedic and neurosurgical care of X-linked hypophosphatemia

Archives de Pédiatrie, 2021
X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity.
Federico Di, Rocco, Anya, Rothenbuhler, Catherine, Adamsbaum, Justine, Bacchetta, Zagorka, Pejin, Georges, Finidori, Stéphanie, Pannier, Agnès, Linglart, Philippe, Wicart   +8 more
openaire   +2 more sources

Efficacy and Safety of Burosumab in X-linked Hypophosphatemia

The Journal of Clinical Endocrinology & Metabolism, 2023
Abstract Context Burosumab is approved for the treatment of X-linked hypophosphatemia (XLH). Objective To assess the efficacy and safety of burosumab in XLH patients, we conducted a systematic review and meta-analysis.
Sen Wang, Xiaoqin Wang, Miao He, Yuanfen Li, Minghui Xiao, Houxun Ma   +5 more
openaire   +2 more sources

Anthropometric characteristics of X‐linked hypophosphatemia

American Journal of Medical Genetics Part A, 2003
AbstractAn anthropometric study was undertaken to assess head proportions of patients with X‐linked hypophosphatemia (XLH). Fourteen morphometric parameters of the head were measured and 10 cephalic indices calculated in 82 affected persons (57 females and 25 males) from 55 unrelated families with XLH, and compared with the results obtained in the ...
Ewa, Pronicka, Ewa, Popowska, Elzbieta, Rowińska, Elzbieta, Arasimowicz, Małgorzata, Syczewska, Dorota, Jurkiewicz, Michał, Lebiedowski   +6 more
openaire   +2 more sources