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Select item 105839981.

Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level

Erik A Imel, Francis H Glorieux, Michael P Whyte, Anthony A Portale, Craig F Munns, Ola Nilsson, Jill H Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Pisit Pitukcheewanont, Etienne Sochett, Wolfgang Högler, Koji Muroya, Hiroyuki Tanaka, Gary S Gottesman, Andrew Biggin, Farzana Perwad, Angel Chen, Mary Scott Roberts, Leanne M Ward

J Clin Endocrinol Metab. 2023 Nov; 108(11): 2990–2998. Published online 2023 Apr 21. doi: 10.1210/clinem/dgad230

PMCID:: PMC10583998

Abstract Article

Select item 105442162.

Impaired 1,25-dihydroxyvitamin D₃ action underlies enthesopathy development in the Hyp mouse model of X-linked hypophosphatemia

Rakshya Rana, Jiana T. Baker, Melissa Sorsby, Supriya Jagga, Shreya Venkat, Shaza Almardini, Eva S. Liu

JCI Insight. 2023 Sep 8; 8(17): e163259. Published online 2023 Sep 8. doi: 10.1172/jci.insight.163259

PMCID:: PMC10544216

Abstract Article PDF–35M

Select item 105236583.

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

Gema Ariceta, Signe Sparre Beck-Nielsen, Annemieke M. Boot, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Francesco Emma, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, Outi Mӓkitie, M. Zulf Mughal, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, Jonathan Liu, Angela Williams, Sue Wood, M. Carola Zillikens

Orphanet J Rare Dis. 2023; 18: 304. Published online 2023 Sep 27. doi: 10.1186/s13023-023-02882-4

PMCID:: PMC10523658

Abstract Article PDF–1.6M

Select item 104003264.

Anticipated effects of burosumab treatment on long-term clinical sequelae in XLH: expert perspectives

Lothar Seefried, Martin Biosse Duplan, Karine Briot, Michael T. Collins, Rachel Evans, Pablo Florenzano, Neil Hawkins, Muhammad Kassim Javaid, Robin Lachmann, Leanne M. Ward

Front Endocrinol (Lausanne) 2023; 14: 1211426. Published online 2023 Jul 20. doi: 10.3389/fendo.2023.1211426

PMCID:: PMC10400326

Abstract Article PDF–566K

Select item 103376855.

X-linked hypophosphatemic rickets with advanced bone age treated with aromatase inhibitor

João Felipe Queiroz, Soraya Lopes Sader, Carina Marques Barroso, Guido de Paula Colares Neto

Endocrinol Diabetes Metab Case Rep. 2023 Apr 1; 2023(2): 23-0005. Published online 2023 May 8. doi: 10.1530/EDM-23-0005

PMCID:: PMC10337685

Abstract Article PDF–482K

Select item 102410926.

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care

Craig F Munns, Han‐Wook Yoo, Muhammad Yazid Jalaludin, Rashida Vasanwala, Manju Chandran, Yumie Rhee, Wai Man BUT, Alice Pik‐Shan Kong, Pen‐Hua Su, Nawaporn Numbenjapon, Noriyuki Namba, Yasuo Imanishi, Roderick J Clifton‐Bligh, Xiaoping Luo, Weibo Xia

JBMR Plus. 2023 Jun; 7(6): e10744. Published online 2023 May 1. doi: 10.1002/jbm4.10744

PMCID:: PMC10241092

Abstract Article PDF–1.4M

Select item 101840107.

Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review

Craig F Munns, Edward P Maguire, Angela Williams, Sue Wood, Andrew Biggin

JBMR Plus. 2023 May; 7(5): e10728. Published online 2023 Mar 14. doi: 10.1002/jbm4.10728

PMCID:: PMC10184010

Abstract Article PDF–497K

Select item 100819548.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 99281839.

Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries

M. Zulf Mughal, Giampiero I. Baroncelli, Carmen de Lucas-Collantes, Agnès Linglart, Andrea Magnolato, Adalbert Raimann, Fernando Santos, Dirk Schnabel, Nick Shaw, Ola Nilsson

Front Endocrinol (Lausanne) 2022; 13: 1034580. Published online 2023 Jan 31. doi: 10.3389/fendo.2022.1034580

PMCID:: PMC9928183

Abstract Article PDF–1.3M

Select item 976888410.

Growth hormone treatment improves final height in children with X-linked hypophosphatemia

Julia André, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler, Agnès Linglart

Orphanet J Rare Dis. 2022; 17: 444. Published online 2022 Dec 21. doi: 10.1186/s13023-022-02590-5

PMCID:: PMC9768884

Abstract Article PDF–964K

Select item 975166211.

X‐Linked Hypophosphatemia Caused by the Prevailing North American PHEX Variant c.*231A>G; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women

Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte

JBMR Plus. 2022 Dec; 6(12): e10692. Published online 2022 Nov 2. doi: 10.1002/jbm4.10692

PMCID:: PMC9751662

Abstract Article PDF–861K

Select item 971478812.

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

Achim Buck, Verena M. Prade, Thomas Kunzke, Reinhold G. Erben, Axel Walch

JCI Insight. 2022 Oct 24; 7(20): e162138. Published online 2022 Oct 24. doi: 10.1172/jci.insight.162138

PMCID:: PMC9714788

Abstract Article PDF–9.6M

Select item 971226913.

Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia

Iris R. Hartley, Rachel I. Gafni, Kelly L. Roszko, Sydney M. Brown, Luis F. de Castro, Amanda Saikali, Carlos R. Ferreira, William A. Gahl, Karel Pacak, Jenny E. Blau, Alison M. Boyce, Isidro B. Salusky, Michael T. Collins, Pablo Florenzano

J Bone Miner Res. Author manuscript; available in PMC 2023 Nov 1.

Published in final edited form as: J Bone Miner Res. 2022 Nov; 37(11): 2174–2185. Published online 2022 Oct 17. doi: 10.1002/jbmr.4702

PMCID:: PMC9712269

Abstract Article PDF–1.5M

Select item 966452314.

Burosumab and Dental Abscesses in Children With X‐Linked Hypophosphatemia

Margaux Gadion, Agathe Hervé, Julia Herrou, Anya Rothenbuhler, Violaine Smail‐Faugeron, Frédéric Courson, Agnès Linglart, Catherine Chaussain, Martin Biosse Duplan

JBMR Plus. 2022 Nov; 6(11): e10672. Published online 2022 Sep 20. doi: 10.1002/jbm4.10672

PMCID:: PMC9664523

Abstract Article PDF–692K

Select item 965284915.

Growth pattern in children with X-linked hypophosphatemia treated with burosumab and growth hormone

Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler, Agnès Linglart

Orphanet J Rare Dis. 2022; 17: 412. Published online 2022 Nov 12. doi: 10.1186/s13023-022-02562-9

PMCID:: PMC9652849

Abstract Article PDF–1.4M

Select item 931448416.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 918756117.

Lower limb bone geometry in adult individuals with X-linked hypophosphatemia: an observational study

Matteo Scorcelletti, Serhan Kara, Jochen Zange, Jens Jordan, Oliver Semler, Eckhard Schönau, Jörn Rittweger, Alex Ireland, Lothar Seefried

Osteoporos Int. 2022; 33(7): 1601–1611. Published online 2022 Apr 18. doi: 10.1007/s00198-022-06385-z

PMCID:: PMC9187561

Abstract Article PDF–1.1M

Select item 885220918.

Health Care Transition From Pediatric- to Adult-Focused Care in X-linked Hypophosphatemia: Expert Consensus

Kathryn Dahir, Ruban Dhaliwal, Jill Simmons, Erik A Imel, Gary S Gottesman, John D Mahan, Gnanagurudasan Prakasam, Allison I Hoch, Prameela Ramesan, Maria Díaz-González de Ferris

J Clin Endocrinol Metab. 2022 Mar; 107(3): 599–613. Published online 2021 Nov 6. doi: 10.1210/clinem/dgab796

PMCID:: PMC8852209

Abstract Article

Select item 867124919.

Sclerostin antibody improves phosphate metabolism hormones, bone formation rates, and bone mass in adult Hyp mice

Kelsey A. Carpenter, Reid Davison, Shruti Shakthivel, Kyle D. Anderson, Frank C. Ko, Ryan D. Ross

Bone. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Bone. 2022 Jan; 154: 116201. Published online 2021 Sep 16. doi: 10.1016/j.bone.2021.116201

PMCID:: PMC8671249

Abstract Article PDF–1.4M

Select item 864086820.

Induction of FGF23-related hypophosphatemic osteomalacia by alcohol consumption

Naoko Hidaka, Hajime Kato, Minae Koga, Masaki Katsura, Yuko Oyama, Yuka Kinoshita, Seiji Fukumoto, Noriko Makita, Masaomi Nangaku, Nobuaki Ito

Bone Rep. 2021 Dec; 15: 101144. Published online 2021 Oct 16. doi: 10.1016/j.bonr.2021.101144

PMCID:: PMC8640868

Abstract Article PDF–1.6M

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