Results 81 to 90 of about 717 (150)

Enzyme replacement therapy for hypophosphatasia—The current paradigm

Clinical Endocrinology, Volume 101, Issue 6, Page 593-601, December 2024.
Abstract Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant‐negative mutations in the gene that encodes TNSALP.
Aaron Schindeler, Karissa Ludwig, Craig F. Munns   +2 more
wiley   +1 more source

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa [PDF]

Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP).
Zillikens, M. Carola, Zervou, Zografia, Timmermans, Remco G.M., Plooij, Roel, van Velsen, Evert F.S., Demirdas, Serwet   +5 more
core   +1 more source

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue‐nonspecific alkaline phosphatase activity due to ALPL gene variants. We describe ALPL variants from the observational, prospective, multinational Global HPP Registry.
Priya S. Kishnani, Lothar Seefried, Kathryn M. Dahir, Gabriel Ángel Martos‐Moreno, Agnès Linglart, Anna Petryk, William R. Mowrey, Shona Fang, Keiichi Ozono, Wolfgang Högler, Cheryl Rockman‐Greenberg   +10 more
wiley   +1 more source

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort

Frontiers in Genetics
IntroductionHypophosphatasia (HPP) is a rare inherited metabolic disease caused by mutations in the ALPL gene. The disease is heterogeneous, complicating its diagnosis and delaying optimal management, leading to severe or lethal outcomes such as failure ...
Afaf Alsagheir, Ali Mcrabi, Meshari Alquayt, Raghad Alhuthil, Afnan Alawi, Eissa Faqeih, Abrar Turki Alabdullatif, Doua Al Homyani, Amal AlJohany, Mariam AlOtaibi, Magdy Rabea, Hassan AlSayed, Mohamed H. Al-Hamed   +12 more
doaj   +1 more source

Diagnosis and initial management of children presenting with premature loss of primary teeth associated with a systemic condition: A scoping review and development of clinical aid

International Journal of Paediatric Dentistry, Volume 34, Issue 6, Page 871-890, November 2024.
Abstract Background Premature loss of primary teeth (PLPT) can be a rare presentation of systemic medical conditions. Premature loss of primary teeth may present a diagnostic dilemma to paediatric dentists. Aims To identify systemic conditions associated with PLPT and develop a clinical aid.
Claudia Heggie, Hiba Al‐Diwani, Paul Arundel, Richard Balmer   +3 more
wiley   +1 more source

Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date

American Journal of Medical Genetics Part A, Volume 194, Issue 9, September 2024.
Abstract Molecular genetics enables more precise diagnoses of skeletal dysplasia and other skeletal disorders (SDs). We investigated the clinical utility of multigene panel testing for 5011 unrelated individuals with SD in the United States (December 2019–April 2022).
Gretchen MacCarrick, Swaroop Aradhya, Mitch Bailey, Dorna Chu, Abigail Hunt, Emanuela Izzo, Deborah Krakow, William Mackenzie, Sarah Poll, Cathleen Raggio, Renée Shediac, Klane K. White, Heather M. McLaughlin, Guillermo Seratti   +13 more
wiley   +1 more source

Real‐world evidence to support regulatory submissions: A landscape review and assessment of use cases

Clinical and Translational Science, Volume 17, Issue 8, August 2024.
Abstract Real‐world evidence (RWE) has an increasing role in preapproval settings to support the approval of new medicines and indications. The main objectives of this study were to identify and characterize regulatory use cases that utilized RWE and other related observational approaches through targeted review of publications and regulatory review ...
Golnoosh Alipour‐Haris, Xinyue Liu, Virginia Acha, Almut G. Winterstein, Mehmet Burcu   +4 more
wiley   +1 more source

A Review of Dental Outcomes for Infants and Preschool Children Enrolled into a Clinical Trial of Asfotase Alfa for Early Onset Hypophosphatasia [PDF]

, 2020
Introduction: Hypophosphatasia (HPP) is a highly variable genetic disease that impedes the development of teeth and bones. HPP is due to mutations in the ALPL gene which encodes the tissue non-specific form of alkaline phosphatase (TNSALP).
Long, Catherine, Rockman-Greenberg, Cheryl, Schroth, Robert J.   +2 more
core  

Therapie der Hypophosphatasie [PDF]

, 2020
Zusammenfassung Die Hypophosphatasie (HPP) als Folge einer genetisch bedingt defizienten Aktivität der gewebeunspezifischen alkalischen Phosphatase (TNAP) ist geprägt durch ein ausgesprochen weites Spektrum möglicher Manifestationen, sowohl hinsichtlich ...
Semler, Oliver, Genest, Franca, Kornak, Uwe, Seefried, Lothar, Barvencik, Florian, Hofmann, Christine   +5 more
core   +1 more source

Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases

Case Reports in Rheumatology, Volume 2024, Issue 1, 2024.
Objectives. Rare metabolic bone diseases can present with symptoms mimicking more common rheumatological conditions including spondyloarthritis, osteoarthritis, and fibromyalgia. Increasing awareness of these rare diseases within the rheumatology community is vital to ensure that affected patients are diagnosed and appropriately treated. The literature
Julia F. Charles, Alan O. Malabanan, Stan Krolczyk, Kathryn M. Dahir, Constantine Saadeh   +4 more
wiley   +1 more source