Alkaline Phosphatase and Hypophosphatasia

por Millán, José Luis, Whyte, Michael P.
Publicado 2015

MON-516 Skeletal Fluorosis from Fluorocarbon Inhalation

por Seagrove-Guffey, Maighan, Whyte, Michael, Mumm, Steven, Cook, Fiona
Publicado 2019

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

Genetic approaches to metabolic bone diseases

por Hannan, Fadil M., Newey, Paul J., Whyte, Michael P., Thakker, Rajesh V.
Publicado 2018

Adult hypophosphatasia treated with reduced frequency of teriparatide dosing

por Polyzos, Stergios A., Tournis, Symeon, Goulas, Antonis, Kollia, Panagoula, Whyte, Michael P.
Publicado 2021

Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand

por Whyte, Michael P, Totty, William G, Novack, Deborah V, Zhang, Xiafang, Wenkert, Deborah, Mumm, Steven
Publicado 2011

LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low‐Density Lipoprotein Receptor‐Related Protein 6

por Whyte, Michael P, Mumm, Steven, Baker, Jonathan C, Zhang, Fan, Sedighi, Homer, Duan, Shenghui, Cundy, Tim
Publicado 2023

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

OR13-4 Safety Profile of Asfotase Alfa Treatment of Patients with Hypophosphatasia: A Pooled Analysis

por Whyte, Michael, Bishop, Nick, Hasan, Jawad, Hofmann, Christine, Högler, Wolfgang, Rockman-Greenberg, Cheryl, Sena, Veruska, Zhou, Shanggen, Kishnani, Priya
Publicado 2019

Growth Curves for Children with X-linked Hypophosphatemia

por Mao, Meng, Carpenter, Thomas O, Whyte, Michael P, Skrinar, Alison, Chen, Chao-Yin, San Martin, Javier, Rogol, Alan D
Publicado 2020

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

Dysosteosclerosis Presents as an “Osteoclast-Poor” Form of Osteopetrosis: Comprehensive Investigation of a 3-Year-Old Girl and Literature Review

por Whyte, Michael P, Wenkert, Deborah, McAlister, William H, Novack, Deborah V, Nenninger, Angie R, Zhang, Xiafang, Huskey, Margaret, Mumm, Steven
Publicado 2010

Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity

por Turan, Serap, Mumm, Steven, Alavanda, Ceren, Kaygusuz, Betul Sare, Gurpinar Tosun, Busra, Arman, Ahmet, Huskey, Margaret, Guran, Tulay, Duan, Shenghui, Bereket, Abdullah, Whyte, Michael P.
Publicado 2022

AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity

por Gorvin, Caroline M., Rogers, Angela, Hastoy, Benoit, Tarasov, Andrei I., Frost, Morten, Sposini, Silvia, Inoue, Asuka, Whyte, Michael P., Rorsman, Patrik, Hanyaloglu, Aylin C., Breitwieser, Gerda E., Thakker, Rajesh V.
Publicado 2018

OR13-2 Burosumab Resulted in Greater Improvement in Rickets Than Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH)

por Imel, Erik, Whyte, Michael, Munns, Craig, Portale, Anthony, Ward, Leanne, Nilsson, Ola, Simmons, Jill, Padidela, Raja, Namba, Noriyuki, Cheong, Hae Il, Mao, Meng, Chen, Chao-Yin, Skrinar, Alison, San Martin, Javier, Glorieux, Francis
Publicado 2019

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

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism

por Gaynor, Katherine U, Grigorieva, Irina V, Mirczuk, Samantha M, Piret, Sian E, Kooblall, Kreepa G, Stevenson, Mark, Rizzoti, Karine, Bowl, Michael R, Nesbit, M Andrew, Christie, Paul T, Fraser, William D, Hough, Tertius, Whyte, Michael P, Lovell-Badge, Robin, Thakker, Rajesh V
Publicado 2020

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

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

por Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Reed, Anita A.C., Cranston, Treena, Thakker, Clare E., Gregory, Lorna, Rimmer, Andrew J., Rust, Nigel, Graham, Una, Morrison, Patrick J., Hunter, Steven J., Whyte, Michael P., McVean, Gil, Buck, David, Thakker, Rajesh V.
Publicado 2012

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