Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry
Dahir, Kathryn M, Seefried, Lothar, Kishnani, Priya S, Petryk, Anna, Högler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel Ãngel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl
Published in Orphanet journal of rare diseases (19.07.2022)
Published in Orphanet journal of rare diseases (19.07.2022)
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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry
Kishnani, Priya S, Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Messali, Andrew, Fang, Shona, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar, Dahir, Kathryn M
Published in Orphanet journal of rare diseases (08.03.2024)
Published in Orphanet journal of rare diseases (08.03.2024)
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Journal Article
Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry
Dahir, Kathryn M, Kishnani, Priya S, Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Rockman-Greenberg, Cheryl, Martel, Samantha E, Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar
Published in Frontiers in endocrinology (Lausanne) (27.03.2023)
Published in Frontiers in endocrinology (Lausanne) (27.03.2023)
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Journal Article
Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases
Charles, Julia F., Malabanan, Alan O., Krolczyk, Stan, Dahir, Kathryn M.
Published in Case reports in rheumatology (18.01.2024)
Published in Case reports in rheumatology (18.01.2024)
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Journal Article
Sodium thiosulfate in the treatment of non-uremic calciphylaxis
Ning, Matthew S., Dahir, Kathryn M., Castellanos, Emily H., McGirt, Laura Y.
Published in Journal of dermatology (01.08.2013)
Published in Journal of dermatology (01.08.2013)
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Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib concurrently misdiagnosed as X-linked hypophosphatemia
Colazo, Juan M., DeCorte, Joseph A., Gillaspie, Erin A., Folpe, Andrew L., Dahir, Kathryn M.
Published in Bone Reports (01.06.2021)
Published in Bone Reports (01.06.2021)
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Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction
Faugere, Marie C. M., Holt, Ginger, Reasoner, Seth A., Colazo, J. M., Dahir, Kathryn M.
Published in Case reports in endocrinology (2020)
Published in Case reports in endocrinology (2020)
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Journal Article
Safety, pharmacokinetics, and pharmacodynamics of efzimfotase alfa, a second-generation enzyme replacement therapy: phase 1, dose-escalation study in adults with hypophosphatasia
Dahir, Kathryn M, Shannon, Amy, Dunn, Derek, Voegtli, Walter, Dong, Qunming, Hasan, Jawad, Pradhan, Rajendra, Pelto, Ryan, Pan, Wei-Jian
Published in Journal of bone and mineral research (13.08.2024)
Published in Journal of bone and mineral research (13.08.2024)
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Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study
Glorieux, Francis H, Langdahl, Bente, Chapurlat, Roland, De Beur, Suzanne Jan, Sutton, Vernon Reid, Poole, Kenneth E S, Dahir, Kathryn M, Orwoll, Eric S, Willie, Bettina M, Mikolajewicz, Nicholas, Zimmermann, Elizabeth, Hosseinitabatabaei, Seyedmahdi, Ominsky, Michael S, Saville, Chris, Clancy, James, MacKinnon, Alastair, Mistry, Arun, Javaid, Muhammad K
Published in Journal of bone and mineral research (02.09.2024)
Published in Journal of bone and mineral research (02.09.2024)
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Journal Article
Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry
Martos-Moreno, Gabriel Ángel, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Petryk, Anna, Kishnani, Priya S, Dahir, Kathryn M, Seefried, Lothar, Fang, Shona, Högler, Wolfgang, Linglart, Agnès
Published in Hormone research in paediatrics (13.07.2023)
Published in Hormone research in paediatrics (13.07.2023)
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Journal Article
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults
Khan, Aliya A., Brandi, Maria Luisa, Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Lewiecki, E. Michael
Published in Osteoporosis international (01.03.2024)
Published in Osteoporosis international (01.03.2024)
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Journal Article
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance
Brandi, Maria Luisa, Khan, Aliya A., Rush, Eric T., Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Lewiecki, E. Michael, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Seefried, Lothar, Simmons, Jill H., Starling, Susan R., Ward, Leanne M., Yao, Liang, Brignardello-Petersen, Romina, Roux, Christian
Published in Osteoporosis international (01.03.2024)
Published in Osteoporosis international (01.03.2024)
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Journal Article
Garetosmab in fibrodysplasia ossificans progressiva: a randomized, double-blind, placebo-controlled phase 2 trial
Di Rocco, Maja, Forleo-Neto, Eduardo, Pignolo, Robert J., Keen, Richard, Orcel, Philippe, Funck-Brentano, Thomas, Roux, Christian, Kolta, Sami, Madeo, Annalisa, Bubbear, Judith S., Tabarkiewicz, Jacek, Szczepanek, Małgorzata, Bachiller-Corral, Javier, Cheung, Angela M., Dahir, Kathryn M., Botman, Esmée, Raijmakers, Pieter G., Al Mukaddam, Mona, Tile, Lianne, Portal-Celhay, Cynthia, Sarkar, Neena, Hou, Peijie, Musser, Bret J., Boyapati, Anita, Mohammadi, Kusha, Mellis, Scott J., Rankin, Andrew J., Economides, Aris N., Trotter, Dinko Gonzalez, Herman, Gary A., O’Meara, Sarah J., DelGizzi, Richard, Weinreich, David M., Yancopoulos, George D., Eekhoff, E. Marelise W., Kaplan, Frederick S.
Published in Nature medicine (01.10.2023)
Published in Nature medicine (01.10.2023)
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Journal Article
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry
Kishnani, Priya S., Seefried, Lothar, Dahir, Kathryn M., Martos‐Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Mowrey, William R., Fang, Shona, Ozono, Keiichi, Högler, Wolfgang, Rockman‐Greenberg, Cheryl
Published in American journal of medical genetics. Part A (17.06.2024)
Published in American journal of medical genetics. Part A (17.06.2024)
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Journal Article
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group
Rush, Eric, Brandi, Maria Luisa, Khan, Aliya, Ali, Dalal S., Al-Alwani, Hatim, Almonaei, Khulod, Alsarraf, Farah, Bacrot, Severine, Dahir, Kathryn M., Dandurand, Karel, Deal, Chad, Ferrari, Serge Livio, Giusti, Francesca, Guyatt, Gordon, Hatcher, Erin, Ing, Steven W., Javaid, Muhammad Kassim, Khan, Sarah, Kocijan, Roland, Lewiecki, E. Michael, Linglart, Agnes, M’Hiri, Iman, Marini, Francesca, Nunes, Mark E., Rockman-Greenberg, Cheryl, Roux, Christian, Seefried, Lothar, Starling, Susan R., Ward, Leanne, Yao, Liang, Brignardello-Petersen, Romina, Simmons, Jill H.
Published in Osteoporosis international (2024)
Published in Osteoporosis international (2024)
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Journal Article
Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures
Dahir, Kathryn M, Ing, Steven W, Deal, Chad, Messali, Andrew, Bates, Toby, Rush, Eric T
Published in JBMR plus (01.08.2024)
Published in JBMR plus (01.08.2024)
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Journal Article
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders
Dahir, Kathryn M, Tilden, Daniel R, Warner, Jeremy L, Bastarache, Lisa, Smith, Derek K, Gifford, Aliya, Ramirez, Andrea H, Simmons, Jill S, Black, Margo M, Newman, John H, Denny, Josh C
Published in The journal of clinical endocrinology and metabolism (01.06.2018)
Published in The journal of clinical endocrinology and metabolism (01.06.2018)
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