Results 41 to 50 of about 172,598 (105)

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

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

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

Tratamento de hipofosfatasia com a enzima asfotase alfa, uma revisão da literatura [PDF]

, 2019
Trabalho de Conclusão de Curso (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Farmácia, 2019.A hipofosfatasia, também conhecida como doença de Rathbun, é uma doença genética rara, sem cura, que acomete ...
Shiratori, Vitor Akira Arake
core  

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

Reply to: “Questioning Conclusions and Statements on the German HTA System: A Critical Perspective”

Clinical Pharmacology &Therapeutics, Volume 117, Issue 1, Page 24-24, January 2025.
James Harnett, Julien Heidt, Ruben G. W. Quek, Laura Walsh   +3 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  

Reliability and Validity of the 6‐Minute Walk Test in Hypophosphatasia [PDF]

, 2019
This investigation evaluated the reliability and validity of the 6-Minute Walk Test (6MWT) in patients with pediatric hypophosphatasia (HPP). Children (aged 6 to 12 years; n = 11), adolescents (13 to 17 years; n = 4), and adults (18 to 65 years; n = 9 ...
Lerma Lara, Sergio, Ioannis C Tomazos, Tomazos, Ioannis C, Phillips, Dawn, Gil L'Italien, Dawn Phillips, Sergio Lerma Lara, Moseley, Scott, L'Italien, Gil, Scott Moseley, Hugo Gomes da Silva, Gomes da Silva, Hugo   +11 more
core   +1 more source

Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.

, 2021
Background: Hypophosphatasia (HPP), a rare metabolic disease, can be inherited in an autosomal recessive (biallelic) or an autosomal dominant (monoallelic) manner.
Del Angel, Guillermo, Zhou, Shanggen, Kishnani, Priya S, Rush, Eric T   +3 more
core   +1 more source