SAT-384 Identification of Heterozygous LRP5 Mutation and a TGFβ-1 Variant of Unknown Significance in a Patient with Hearing Loss, High Bone Mass, and Oropharyngeal Exostoses

por Cheng, Cheng, Avery, James, Gottesman, Gary, Mumm, Steven, Whyte, Michael P
Publicado 2020

SAT-LB085 First Report of Burosumab (Anti-FGF23 Monoclonal Antibody) for Rickets Complicating HRAS-Associated Cutaneous Skeletal Hypophosphatemia Syndrome

por Smith, Pamela, Bayliss, Susan, Shinawi, Marwan, Gottesman, Gary, McAlister, William, Sugarman, Jeffrey, Whyte, Michael, Arbelaez, Ana Maria
Publicado 2019

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...

por Dahir, Kathryn McCrystal, Black, Margo, Gottesman, Gary S, Imel, Erik A, Mumm, Steven, Nichols, Cindy M, Whyte, Michael P
Publicado 2022

Acromelia‐oligodontia syndrome

por Talasila, Jyothirmai, Pachigolla, Ramaswamy, Yarlagadda, Kiranmai V. S. N., Vuppala, Ramu, Grzeschik, Karl‐Heinz, Kiran K.V.S, Sai, Rose, Catherine M., Gottesman, Gary S., Urban, Zsolt
Publicado 2017

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

por Dahir, Kathryn, Dhaliwal, Ruban, Simmons, Jill, Imel, Erik A, Gottesman, Gary S, Mahan, John D, Prakasam, Gnanagurudasan, Hoch, Allison I, Ramesan, Prameela, Díaz-González de Ferris, Maria
Publicado 2021

Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia

por Linglart, Agnès, Imel, Erik A, Whyte, Michael P, Portale, Anthony A, Högler, Wolfgang, Boot, Annemieke M, Padidela, Raja, van’t Hoff, William, Gottesman, Gary S, Chen, Angel, Skrinar, Alison, Scott Roberts, Mary, Carpenter, Thomas O
Publicado 2021

Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia

por Ward, Leanne M, Glorieux, Francis H, Whyte, Michael P, Munns, Craig F, Portale, Anthony A, Högler, Wolfgang, Simmons, Jill H, Gottesman, Gary S, Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Nilsson, Ola, Mao, Meng, Chen, Angel, Skrinar, Alison, Roberts, Mary Scott, Imel, Erik A
Publicado 2022

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

por Imel, Erik A, Glorieux, Francis H, Whyte, Michael P, Portale, Anthony A, Munns, Craig F, Nilsson, Ola, Simmons, Jill H, Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S, Biggin, Andrew, Perwad, Farzana, Chen, Angel, Roberts, Mary Scott, Ward, Leanne M
Publicado 2023

Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia

por Padidela, Raja, Whyte, Michael P., Glorieux, Francis H., Munns, Craig F., Ward, Leanne M., Nilsson, Ola, Portale, Anthony A., Simmons, Jill H., Namba, Noriyuki, Cheong, Hae Il, Pitukcheewanont, Pisit, Sochett, Etienne, Högler, Wolfgang, Muroya, Koji, Tanaka, Hiroyuki, Gottesman, Gary S., Biggin, Andrew, Perwad, Farzana, Williams, Angela, Nixon, Annabel, Sun, Wei, Chen, Angel, Skrinar, Alison, Imel, Erik A.
Publicado 2021