Results 91 to 100 of about 948 (174)

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

Natural history of perinatal and infantile hypophosphatasia: A retrospective study [PDF]

, 2019
Objective: To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia.
Argente, Jesús, Beck, Michael, DiMeglio, Linda, Fujita, Kenji P., Hofmann, Christine, Leung, Edward, Liese, Johannes, Martos-Moreno, Gabriel, Moseley, Scott, Reeves, Amy, Simm, Peter, Simmons, Jill, Steelman, Joel, Steiner, Robert D., Superti-Furga, Andrea, Whyte, Michael P., Wilcox, William R., Wuh-Liang Hwu, Paul   +17 more
core   +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

Infantile Hypophosphatasia: Clinical Case

Вопросы современной педиатрии, 2020
Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive ...
Tatyana V. Gabrusskaya, Yana V. Panutina, Maria O. Revnova, Mikhail M. Kostik   +3 more
doaj   +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

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

BMC Musculoskeletal Disorders, 2019
Background Hypophosphatasia (HPP) is a rare, systemic disease caused by mutation(s) within the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP).
Wolfgang Högler, Craig Langman, Hugo Gomes da Silva, Shona Fang, Agnès Linglart, Keiichi Ozono, Anna Petryk, Cheryl Rockman-Greenberg, Lothar Seefried, Priya S. Kishnani   +9 more
doaj   +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

ENPP1 Inhibition: A Promising Oral Therapy for Later-Onset Hypophosphatasia [PDF]

Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by deficient activity of tissue-nonspecific alkaline phosphatase (TNAP), an enzyme encoded by the ALPL gene.
MacRae, Vicky
core   +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

HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW

Остеопороз и остеопатии, 2015
Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose.
S S Rodionova, E Yu Zakharova, Yu V Buklemishev, U R Khakimov, S V Lapkina   +4 more
doaj   +1 more source