Results 81 to 90 of about 937 (188)

Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
Background Hypophosphatasia (HPP) is a rare, inherited metabolic bone disorder characterized by mutation in the tissue nonspecific isoenzyme of alkaline phosphatase (ALP) (TNSALP). Perinatal HPP is the most severe type of HPP, primarily characterized by respiratory distress.
Doua Khalid Al Homyani, Shahad Khalid Al Hemaiani, Qaydah Qayed Al Harthi, Rayan Al Zahrani, Ali Saad Al Qarni, Osamu Isozaki   +5 more
wiley   +1 more source

Hypophosphatasia and neuropathic pain:Related to vitamin B6 metabolism? [PDF]

Hypophosphatasia (HPP) is caused by pathogenic variant(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). Diminished enzyme activity results in elevated serum concentrations of pyridoxal 5′-phosphate (PLP), the main ...
Van Velsen, Evert F.S., Zervou, Zografia, Zillikens, M. Carola   +2 more
core   +1 more source

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

Hypophosphastasia (HPP): pathogenesis and current treatment options [PDF]

, 2017
Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease characterized by the abnormal development of bones and teeth, due to defective mineralization (1,2).
LaSalle, Luisa Ellis
core  

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

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

Dental manifestations in adult hypophosphatasia and their correlation with biomarkers

JIMD Reports, 2022
Hypophosphatasia (HPP) is a genetic condition with broad clinical manifestations caused by alkaline phosphatase (ALP) deficiency. Adults with HPP exhibit a wide spectrum of signs and symptoms.
Priya Sinha, Rachel Gabor, Rachael Haupt‐Harrington, Leila Deering, Robert D. Steiner   +4 more
doaj   +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

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