Journal ArticleDOI
Clinical spectrum of hypophosphatasia diagnosed in adults
Kathryn E. Berkseth,Peter J. Tebben,Matthew T. Drake,Theresa E. Hefferan,Donna E Jewison,Robert A. Wermers +5 more
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TLDR
It is suggested that adult HPP demonstrates a wide spectrum of clinical manifestations including musculoskeletal pain, fractures, chondrocalcinosis and dental anomalies with some overlap in laboratory characteristics in relationship to disease severity.About:
This article is published in Bone.The article was published on 2013-05-01. It has received 133 citations till now. The article focuses on the topics: Hypophosphatasia.read more
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Rare Bone Diseases and Their Dental, Oral, and Craniofacial Manifestations
Brian L. Foster,Mary Scott Ramnitz,Rachel I Gafni,Andrea Burke,Alison M. Boyce,Janice S. Lee,John Tim Wright,Sunday O. Akintoye,Martha J. Somerman,Michael T. Collins +9 more
TL;DR: This review focuses on dental, oral, and craniofacial manifestations of rare bone diseases and aims to improve the identification of genetic, molecular, and/or biologic causes, diagnoses, and treatment of these and other rare bone conditions that may share underlying mechanisms of disease.
Journal ArticleDOI
Hypophosphatasia: an overview of the disease and its treatment
TL;DR: This review presents the current knowledge on hypophosphatasia, a rare genetic disease of very variable severity (from lethal to mild) and clinical presentation, caused by defective production of tissue-non-specific alkaline phosphatase (TNSALP).
Journal ArticleDOI
Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia.
Priya S. Kishnani,Cheryl Rockman-Greenberg,Frank Rauch,M. Tariq Bhatti,Scott Moseley,Andrew Denker,Eric Watsky,Michael P. Whyte,Michael P. Whyte +8 more
TL;DR: It is suggested that in adults and adolescents with pediatric-onset HPP, treatment with asfotase alfa is associated with normalization of circulating TNSALP substrate levels and improved functional abilities.
Journal ArticleDOI
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa.
Priya S. Kishnani,Eric T. Rush,Paul Arundel,Nick Bishop,Kathryn Dahir,William D. Fraser,Paul Harmatz,Agnès Linglart,Craig F Munns,Mark E. Nunes,Howard M. Saal,Lothar Seefried,Keiichi Ozono +12 more
TL;DR: In this paper, the authors provide guidance on the monitoring of patients with hypophosphatasia during treatment with asfotase alfa, including recommendations for laboratory, efficacy, and safety assessments and the frequency with which these should be performed during the course of treatment.
Journal ArticleDOI
Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia
TL;DR: Clinicians should take notice of persistent hypoph phosphatasemia, consider the diagnosis of hypophosphatasia, and be cautious when considering potent anti‐remodeling therapy in these adults, who have more crystalline arthritis, orthopedic surgery, chondrocalcinosis, calcific periarthritis, enthesopathy, and diffuse idiopathic skeletal hyperostosis than a general adult patient population.
References
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Bone histomorphometry: Standardization of nomenclature, symbols, and units: Report of the asbmr histomorphometry nomenclature committee
A. Michael Parfitt,Marc K. Drezner,Francis H. Glorieux,John A. Kanis,Hartmut H. Malluche,Pierre J. Meunier,Susan M. Ott,Robert R. Recker +7 more
TL;DR: A committee of the Society to develop a unified system of termnology, suitable for adoption by the Journal of Bone and Mineral Research as part of its Instructions to Authors is formed, and is as complex and conceptually difficult as the field with which it deals.
Journal Article
Bone Histomorphometry : Standardization of Nomenclature, Symbols, and Units
A. M. Parfitt,Marc K. Drezner,Francis H. Glorieux,John A. Kanis,Hartmut H. Malluche,P. J. Meunier,Susan M. Ott,Robert R. Recker +7 more
Journal ArticleDOI
History of the Rochester Epidemiology Project
TL;DR: The Rochester Epidemiology Project is a unique medical records-linkage system that encompasses the care delivered to residents of Rochester and Olmsted County, Minnesota and is able to provide accurate incidence data for almost any serious condition and to support population-based analytic studies of disease causes and outcomes.
MonographDOI
Primer on the metabolic bone diseases and disorders of mineral metabolism
John P. Bilezikian,Roger Bouillon,Thomas L. Clemens,Juliet E. Compston,Douglas C. Bauer,Peter R. Ebeling,Klaus Engelke,David Goltzman,Theresa A. Guise,Suzanne M. Jan de Beur,Harald Jüppner,Karen M. Lyons,Laurie K. McCauley,Michael R. McClung,Paul D. Miller,Socrates E. Papapoulos,G. David Roodman,Clifford J. Rosen,Ego Seeman,Ego Seeman,Rajesh V. Thakker,Michael P. Whyte,Michael P. Whyte,Mone Zaidi +23 more
TL;DR: This Book have some digital formats such us :paperbook, ebook, kindle, epub, fb2 and another formats.
Journal ArticleDOI
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Michael P. Whyte,Cheryl R. Greenberg,Nada J. Salman,Michael B. Bober,William H. McAlister,Deborah Wenkert,Bradley J. Van Sickle,Jill H. Simmons,Terence S. Edgar,Martin L. Bauer,Mohamed A. Hamdan,Nick Bishop,Richard Lutz,Mairead McGinn,Stanley Craig,Jean N. Moore,John W. Taylor,Robert H. Cleveland,William R. Cranley,Ruth P. Lim,Tom D. Thacher,J. Mayhew,Matthew Downs,José Luis Millán,Alison Skrinar,Philippe Crine,Hal Landy +26 more
TL;DR: ENB-0040, an enzyme-replacement therapy, was associated with improved findings on skeletal radiographs and improved pulmonary and physical function in infants and young children with life-threatening hypophosphatasia.
Related Papers (5)
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Michael P. Whyte,Cheryl R. Greenberg,Nada J. Salman,Michael B. Bober,William H. McAlister,Deborah Wenkert,Bradley J. Van Sickle,Jill H. Simmons,Terence S. Edgar,Martin L. Bauer,Mohamed A. Hamdan,Nick Bishop,Richard Lutz,Mairead McGinn,Stanley Craig,Jean N. Moore,John W. Taylor,Robert H. Cleveland,William R. Cranley,Ruth P. Lim,Tom D. Thacher,J. Mayhew,Matthew Downs,José Luis Millán,Alison Skrinar,Philippe Crine,Hal Landy +26 more