Zobrazeno 1 - 10
of 3 900
pro vyhledávání: '"pompe disease"'
Autor:
Jaloliddin Rustamov, Zahiriddin Rustamov, Mohd Saberi Mohamad, Nazar Zaki, Amal Al Tenaiji, Mariam Al Harbi, Fatma Al Jasmi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Pompe disease (OMIM #232300), a rare genetic disorder, leads to glycogen buildup in the body due to an enzyme deficiency, particularly harming the heart and muscles. Infantile-onset Pompe disease (IOPD) requires urgent treatment to prevent m
Externí odkaz:
https://doaj.org/article/d9dbd0ee2c444adca0c8d81bbaad89b0
Autor:
Jingfei Zhang, Xinyu Lin, Lan Yin, Yue Song, Xinglu Chen, Yingchuan Zhu, Wenhao Jiang, Yilu Lu, Yongxin Ma
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Pompe disease, a severe lysosomal storage disorder, is marked by heart problems, muscle weakness, and respiratory difficulties. This study aimed to identify novel markers for infantile-onset Pompe disease by analyzing key genes and immune ce
Externí odkaz:
https://doaj.org/article/00a4ca19edbd4dcaa504caec3b29c1f4
Autor:
Priya S. Kishnani, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz-Manera, Mazen M. Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Noemi Hummel, Agnieszka Kopiec, Fred Holdbrook, Simon Shohet, Antonio Toscano, on behalf of the PROPEL Study Group
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-9 (2024)
Abstract Background Late-onset Pompe disease (LOPD), a rare autosomal recessive multisystemic disorder, substantially impacts patients’ day-to-day activities, outcomes, and health-related quality of life (HRQoL). The PROPEL trial compared cipagluco
Externí odkaz:
https://doaj.org/article/6c94129535e0439fa3e890c6a89ede54
Autor:
Giancarlo Parenti, Simona Fecarotta, Marianna Alagia, Federica Attaianese, Alessandra Verde, Antonietta Tarallo, Vincenza Gragnaniello, Athanasia Ziagaki, Maria Jose’ Guimaraes, Patricio Aguiar, Andreas Hahn, Olga Azevedo, Maria Alice Donati, Beata Kiec-Wilk, Maurizio Scarpa, Nadine A. M. E. van der Beek, Mireja Del Toro Riera, Dominique P. Germain, Hidde Huidekoper, Johanna M. P. van den Hout, Ans T. van der Ploeg, and the MetabERN Subnetwork for Lysosomal Disorders
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-23 (2024)
Abstract Clinical pathway recommendations (CPR) are based on existing guidelines and deliver a short overview on how to deal with a specific diagnosis, resulting therapy and follow-up. In this paper we propose a methodology for developing CPRs for Po
Externí odkaz:
https://doaj.org/article/ef4620eaa39f4a08bbe3b14b878a0993
Autor:
Moein Mir, Kianmehr Rouhani, Kiana Rouhani, Mohammadjavad Hassani, Mohammadrafi Damirchi, Sajjad Yazdansetad, Mehrdad Aghaei
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-7 (2024)
Abstract Background Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells
Externí odkaz:
https://doaj.org/article/3b6eac6f02f74cc9b98bf556317d42b1
Publikováno v:
罕见病研究, Vol 3, Iss 3, Pp 318-325 (2024)
ObjectiveTo investigate the clinical features and genetic characteristics of patients with late-onset Pompe disease(LOPD).MethodsA total of 13 patients diagnosed with LOPD in the First Affiliated Hospital of Zhejiang University School of Medicine fro
Externí odkaz:
https://doaj.org/article/7487c38618fc40b497f84eab5aefc6b0
Autor:
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction. Enzyme replacement therapy with recombinant human acid alpha
Externí odkaz:
https://doaj.org/article/dea8e376910644618a67679fbc33812e
Autor:
Yuying Zhao, Xiaolin Yu, Duoling Li, Jingzhen He, Yuzhi Li, Bin Zhang, Na Zhang, Qian Wang, Chuanzhu Yan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Late-onset Pompe disease (LOPD) is mainly characterized by progressive limb-girdle muscle weakness and respiratory impairment, whereas stroke and cerebrovascular abnormalities have been insufficiently studied in LOPD. This study a
Externí odkaz:
https://doaj.org/article/833564d0b37340528a6421dfc1f17ede
Autor:
T. L. Klein, J. Bender, S. Bolton, T. Collin-Histed, A. Daher, L. De Baere, D. Dong, J. Hopkin, J. Johnson, T. Lai, M. Pavlou, T. Schaller, I. Žnidar
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in
Externí odkaz:
https://doaj.org/article/d2e571d283e8449eb9ed832dcb478784
Autor:
Barry J. Byrne, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen. Fir
Externí odkaz:
https://doaj.org/article/80f9631db5ec471a9488eaff38c0f152