SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta

por Choksi, Ishani, Carpenter, Thomas O, Robinson, Cemre
Publicado 2020

Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia

por Soto Barros, Julio, Braddock, Demetrios, Carpenter, Thomas O.
Publicado 2023

A De Novo Deleterious PHEX Variant Without Clinical Features of X-Linked Hypophosphatemia

por Kayser, Michelle, Jain, Preti, Bale, Allen, Carpenter, Thomas O
Publicado 2023

SAT-065 A Novel De Novo GATA3 Gene Mutation in an Adolescent with HDR Syndrome

por Cruz-Aviles, Lisa Michelle, Bale, Allen, Carpenter, Thomas O
Publicado 2020

Serum Levels of Lipocalin Are Lower in Adolescents With X-Linked Hypophosphatemia

por Simpson, Christine A, Santoro, Anna Maria, Carpenter, Thomas O, Insogna, Karl Leonard
Publicado 2021

Skeletal disease in a father and daughter with a novel monoallelic WNT1 mutation

por Ang, Kathleen, Sanchez Rangel, Elizabeth, Yuan, Qianying, Wu, Dianqing, Carpenter, Thomas O., Insogna, Karl
Publicado 2018

Effects of ethnicity and vitamin D supplementation on vitamin D status and changes in bone mineral content in infants

por Abrams, Steven A, Hawthorne, Keli M, Rogers, Stefanie P, Hicks, Penni D, Carpenter, Thomas O
Publicado 2012

Circulating Levels of Leptin and Lipocalin-2 in Patients With X-Linked Hypophosphatemia

por Simpson, Christine A, Santoro, Anna Maria, Carpenter, Thomas O, Deng, Yanhong, Parziale, Stephen, Insogna, Karl L
Publicado 2023

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with...

por Thompson, Miles D., Li, Xueying, Spencer-Manzon, Michele, Andrade, Danielle M., Murakami, Yoshiko, Kinoshita, Taroh, Carpenter, Thomas O.
Publicado 2023

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

Description of 5 Novel SLC34A3/NPT2c Mutations Causing Hereditary Hypophosphatemic Rickets With Hypercalciuria

por Chen, Alyssa, Ro, Hannah, Mundra, Venkat Ram Rakesh, Joseph, Kelly, Brenner, Dennis, Carpenter, Thomas O., Rizk, Dana V., Bergwitz, Clemens
Publicado 2019

Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia

por Weber, Thomas J, Imel, Erik A, Carpenter, Thomas O, Peacock, Munro, Portale, Anthony A, Hetzer, Joel, Merritt, J Lawrence, Insogna, Karl
Publicado 2022

OR29-06 Burosumab Improves Biochemical, Skeletal, and Clinical Features of Tumor-Induced Osteomalacia Syndrome

por Carpenter, Thomas O, Miller, Paul D, Weber, Thomas J, Peacock, Munro, Insogna, Karl L, Kumar, Rajiv, Luca, Diana, Cimms, Tricia, Roberts, Mary Scott, de Beur, Suzanne Jan
Publicado 2020

Burosumab for the Treatment of Tumor‐Induced Osteomalacia

por Jan de Beur, Suzanne M, Miller, Paul D, Weber, Thomas J, Peacock, Munro, Insogna, Karl, Kumar, Rajiv, Rauch, Frank, Luca, Diana, Cimms, Tricia, Roberts, Mary Scott, San Martin, Javier, Carpenter, Thomas O
Publicado 2021

Reply to: Burosumab for Tumor‐Induced Osteomalacia: not Enough of a Good Thing

por Jan de Beur, Suzanne M., Miller, Paul D., Weber, Thomas J., Peacock, Munro, Insogna, Karl, Kumar, Rajiv, Rauch, Frank, Luca, Diana, Cimms, Tricia, Roberts, Mary Scott, Martin, Javier San, Carpenter, Thomas O.
Publicado 2021

Effect of four monthly doses of a human monoclonal anti-FGF23 antibody (KRN23) on quality of life in X-linked hypophosphatemia

por Ruppe, Mary D., Zhang, Xiaoping, Imel, Erik A., Weber, Thomas J., Klausner, Mark A., Ito, Takahiro, Vergeire, Maria, Humphrey, Jeffrey S., Glorieux, Francis H., Portale, Anthony A., Insogna, Karl, Peacock, Munro, Carpenter, Thomas O.
Publicado 2016

Pharmacokinetics and pharmacodynamics of a human monoclonal anti‐FGF23 antibody (KRN23) in the first multiple ascending‐dose trial treating adults with X‐linked hypophosphatemia...

por Zhang, Xiaoping, Imel, Erik A., Ruppe, Mary D., Weber, Thomas J., Klausner, Mark A., Ito, Takahiro, Vergeire, Maria, Humphrey, Jeffrey, Glorieux, Francis H., Portale, Anthony A., Insogna, Karl, Carpenter, Thomas O., Peacock, Munro
Publicado 2015

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

Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)

por Sarafrazi, Soodabeh, Daugherty, Sean C., Miller, Nicole, Boada, Patrick, Carpenter, Thomas O., Chunn, Lauren, Dill, Kariena, Econs, Michael J., Eisenbeis, Scott, Imel, Erik A., Johnson, Britt, Kiel, Mark J., Krolczyk, Stan, Ramesan, Prameela, Truty, Rebecca, Sabbagh, Yves
Publicado 2021

Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency

por Oheim, Ralf, Zimmerman, Kristin, Maulding, Nathan D, Stürznickel, Julian, von Kroge, Simon, Kavanagh, Dillon, Stabach, Paul R, Kornak, Uwe, Tommasini, Steven M, Horowitz, Mark C, Amling, Michael, Thompson, David, Schinke, Thorsten, Busse, Björn, Carpenter, Thomas O., Braddock, Demetrios T
Publicado 2019