Zobrazeno 1 - 10
of 511
pro vyhledávání: '"late-onset pompe disease"'
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:
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:
Jorge Alfredo Bevilacqua, Abdullah Mohammed Al-Salti, Abubaker Al Madani, Armando Alves da Fonseca, Hacer Durmus, Josiah Chai, Ali Alshehri, Márcia Gonçalves Ribeiro, Paulo Sgobbi, Sergey S. Nikitin, Steven Vargas, Adriana Furtado, Nathan Thibault, Roberto Araujo, Nadia Daba
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
IntroductionHereditary myopathies arise due to numerous pathogenic variants occurring in distinct genes, which amount to several hundred. Limb–girdle muscular dystrophies (LGMDs) constitute a heterogeneous group of neuromuscular disorders involving
Externí odkaz:
https://doaj.org/article/08e96ced39df4405ab6e4d78c5828925
Autor:
Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox, Benedikt Schoser
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
Abstract Background The minimal clinically important difference (MCID) is the smallest change in outcome that physicians or patients would consider meaningful and is relevant when evaluating disease progression or the efficacy of interventions. Studi
Externí odkaz:
https://doaj.org/article/038589708d914771b4227aa70fd5c9b8
Autor:
Tahseen Mozaffar, Lionel Riou França, Jérôme Msihid, Pragya Shukla, Irina Proskorovsky, Tianyue Zhou, Magali Periquet, Kristina An Haack, Laurence Pollissard, Volker Straub
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101109- (2024)
Background: The efficacy of avalglucosidase alfa (AVA) versus alglucosidase alfa (ALG) on forced vital capacity percent predicted (FVCpp) in patients with late-onset Pompe disease (LOPD) has been assessed in the Phase 3 COMET trial (NCT02782741). Due
Externí odkaz:
https://doaj.org/article/8c1269ee7f074a86a443bd3cdd49e43a
Autor:
Alberto Palladino, Luigia Passamano, Marianna Scutifero, Salvatore Morra, Esther Picillo, Andrea Antonio Papa, Gerardo Nigro, Luisa Politano
Publikováno v:
Cardiogenetics, Vol 14, Iss 1, Pp 38-50 (2024)
Background. Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency. There are two forms of Pompe disease based on the age of onset, the infantile and the ad
Externí odkaz:
https://doaj.org/article/97197456b4004927ac93b6d7e9f09f54
Autor:
Priya S. Kishnani, Simon Shohet, Syed Raza, Noemi Hummel, Jeffrey P. Castelli, Sheela Sitaraman Das, Heng Jiang, Agnieszka Kopiec, Ian Keyzor, Andreas Hahn
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-12 (2024)
Abstract Background The construct validity and interpretation of the Patient-Reported Outcome Measurement Information System (PROMIS®) Physical Function short form 20a (PF20a) questionnaire were evaluated for patients with late-onset Pompe disease (
Externí odkaz:
https://doaj.org/article/2bea6ae7ace94f38add7a9b92b63452c
Autor:
Matthias Boentert, Kenneth I. Berger, Jordi Díaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J. Jaime Caro
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
Abstract Background Clinical trials for rare diseases often include multiple endpoints that capture the effects of treatment on different disease domains. In many rare diseases, the primary endpoint is not standardized across trials. The win ratio ap
Externí odkaz:
https://doaj.org/article/e7b737f3c80f41c2a3616eefc9531926
Autor:
Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek, Linda E. M. van den Berg
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background In 2011 a 12 weeks personalized exercise training program in 23 mildly affected adult late onset Pompe patients (age 19.6–70.5 years) improved endurance, muscle strength and function. Data on long-term effects of this program or
Externí odkaz:
https://doaj.org/article/aca2090aef6e484eb4b1aa989c6b3cdb