Results 101 to 110 of about 9,342 (275)

Evaluation of Alveolar Bone Hypomineralization in Hypophosphatasia Patients Using Orthopantomography [PDF]

, 2021
Rena Okawa, Takashi Nakamoto, Saaya Matayoshi, Kazuhiko Nakano, Naoya Kakimoto   +4 more
openalex   +1 more source

Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis—A synthesis of recent findings

Periodontology 2000, EarlyView.
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer, Luigi Nibali, Noha Zoheir, Niki M. Moutsopoulos, Bruno G. Loos   +4 more
wiley   +1 more source

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

Orphanet Journal of Rare Diseases, 2022
Background The clinical signs and symptoms of hypophosphatasia (HPP) can manifest during any stage of life. The age at which a patient’s symptoms are reported can impact access to targeted treatment with enzyme replacement therapy (asfotase alfa), as ...
K. Dahir, L. Seefried, P. Kishnani, A. Petryk, W. Högler, A. Linglart, G. Martos-Moreno, K. Ozono, S. Fang, C. Rockman-Greenberg   +9 more
semanticscholar   +1 more source

Alkaline phosphatases in the complex chronic kidney disease-mineral and bone disorders [PDF]

, 2018
Alkaline phosphatases (APs) remove the phosphate (dephosphorylation) needed in multiple metabolic processes (from many molecules such as proteins, nucleotides, or pyrophosphate). Therefore, APs are important for bone mineralization but paradoxically they
Aguilar, Armando, Benito, Silvia, Bover, Jordi, Cozzolino, Mario, Dasilva, Iara, López-Báez, Víctor, Mazzaferro, Sandro, Ramos, Alejandra, Ureña, Pablo   +8 more
core   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, Volume 109, Issue 2, Page 266-276, February 2026.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Modern Approaches to the Management of Children with Hypophosphatasia

Педиатрическая фармакология, 2023
Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova   +22 more
doaj   +1 more source

Clinical and genetic characteristics of hypophosphatasia in Chinese children [PDF]

, 2021
Meijuan Liu, Min Liu, Xuejun Liang, Di Wu, Wenjing Li, Chang Su, Bingyan Cao, Jiajia Chen, Chunxiu Gong   +8 more
openalex   +1 more source

Diagnosis, treatment, and follow-up of patients with hypophosphatasia

Endocrine
Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000–1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and
J. G. Cárdenas-Aguilera, Vladimir González-López, A. M. Zarante-Bahamón, Juan Carlos Prieto-Rivera, Richard Baquero-Rodríguez, K. R. Chacón-Acevedo, Adriana Isabel Meza-Martínez, A. K. Serrano-Gayubo, Adriana Medina-Orjuela, Jimena Adriana Cáceres-Mosquera, Gustavo Adolfo Guerrero-Tinoco, María Fernanda García-Rueda, Pilar Guarnizo-Zuccardi, Gilberto Herrera-Ortiz, Carolina Rojas-Barrera, Martha Isabel Carrascal-Guzmán, María Fernanda Reina-Ávila, S. L. Arguinzoniz-Valenzuela, L. Belmont-Martínez, Mariana Del-Pino, G. Viterbo, Mariana Seijo, J. Calzada-Hernández, Norma Elizabeth Guerra-Hernández, O. Brunetto   +24 more
semanticscholar   +1 more source

Identifying adult hypophosphatasia in the rheumatology unit

Orphanet Journal of Rare Diseases, 2022
Background The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis.
J. Feurstein, M. Behanova, J. Haschka, K. Roetzer, G. Uyanik, Benjamin Hadzimuratovic, M. Witsch-Baumgartner, G. Schett, J. Zwerina, R. Kocijan   +9 more
semanticscholar   +1 more source

Pharmacotherapy Risks in Rare Genetic Diseases: Cross‐Referencing ACMG Secondary Findings v3.2 List With Clinical Databases

Clinical and Translational Science, Volume 19, Issue 1, January 2026.
ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen, Benjamin Q. Duong, Jordan Brady, Pamela Arn   +3 more
wiley   +1 more source