Zobrazeno 1 - 10
of 903
pro vyhledávání: '"ALPL"'
Autor:
Jiayi Dong, Wanmin Zhao, Jiangdong Zhao, Ji Chen, Ping Liu, Xueni Zheng, Dehua Li, Yang Xue, Hongzhi Zhou
Publikováno v:
Journal of Nanobiotechnology, Vol 22, Iss 1, Pp 1-18 (2024)
Abstract Background Early-onset bone dysplasia is a common manifestation of hypophosphatasia (HPP), an autosomal inherited disease caused by ALPL mutation. ALPL ablation induces prototypical premature bone ageing characteristics, resulting in impaire
Externí odkaz:
https://doaj.org/article/788c74acbd104da3a5f6b9694213bb76
Publikováno v:
AACE Clinical Case Reports, Vol 10, Iss 2, Pp 38-40 (2024)
Background/Objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP. Case Report: A 36-year-old woman prese
Externí odkaz:
https://doaj.org/article/66d450ed4b754e7e88c9567314e0d0fb
Autor:
Michal Antkowiak, Maciej Szydlowski
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Although obesity in the domestic dog (Canis lupus familiaris) is known to decrease well-being and shorten lifespan, the genetic risk variants associated with canine obesity remain largely unknown. In our study, which focused on the obesity-prone Labr
Externí odkaz:
https://doaj.org/article/6dbdc30d8906449c9ac1a2ec2a0a9739
Autor:
Julia Feurstein, Martina Behanova, Judith Haschka, Katharina Roetzer, Gökhan Uyanik, Benjamin Hadzimuratovic, Martina Witsch-Baumgartner, Georg Schett, Jochen Zwerina, Roland Kocijan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-8 (2022)
Abstract Background The most frequent manifestation in adult hypophosphatasia (HPP) is musculoskeletal pain. The unspecific nature of its clinical presentation may prevent correct diagnosis. The aim of the study was to assess the prevalence of ALPL m
Externí odkaz:
https://doaj.org/article/72ddd8a49dee4818ba48410d25d3ba48
Autor:
Antara Dattagupta, BS, Shelley Williamson, MD, Lamees I. El Nihum, MD, MEng, Steven Petak, MD, JD
Publikováno v:
AACE Clinical Case Reports, Vol 8, Iss 6, Pp 255-258 (2022)
Background/Objective: Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare subtype of the heritable connective tissue disorder characterized in the 2017 Ehlers-Danlos syndrome (EDS) nosology. Three biallelic mutations, B4GALT7, B3GALT6, and SL
Externí odkaz:
https://doaj.org/article/fb14b89aad0745ca8ae5e644537db42e
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 6, Pp 1065-1068 (2022)
Objective: One multiparity women had recurrent pregnancies of skeletal dysplasia. The karyotype and array-comparative genomic hybridization were unremarkable. Thus, trio whole exome sequencings were suggested. Case report: The ALPL gene mutations wer
Externí odkaz:
https://doaj.org/article/34e8a2e2c07e4a92acecd198888764ce
Autor:
Luigia Cinque, Flavia Pugliese, Antonio Stefano Salcuni, Domenico Trombetta, Claudia Battista, Tommaso Biagini, Bartolomeo Augello, Grazia Nardella, Francesco Conti, Sabrina Corbetta, Rita Fischetto, Thomas Foiadelli, Agostino Gaudio, Cosimo Giannini, Enrico Grosso, Gregorio Guabello, Stefania Massuras, Andrea Palermo, Luisa Politano, Francesca Pigliaru, Rosaria Maddalena Ruggeri, Emanuela Scarano, Piera Vicchio, Salvatore Cannavò, Mauro Celli, Francesco Petrizzelli, Mario Mastroianno, Marco Castori, Alfredo Scillitani, Vito Guarnieri
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients recr
Externí odkaz:
https://doaj.org/article/0354a004b69343bd97c812b9b831c063
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