Zobrazeno 1 - 10
of 313
pro vyhledávání: '"SRT, Substrate reduction therapy"'
Publikováno v:
Molecular Genetics and Metabolism
Introduction The impact of SARS-CoV-2 in rare disease populations has been underreported. Gaucher disease (GD) is a prototype rare disease that shares with SARS-CoV-2 a disruption of the lysosomal pathway. Materials-methods Retrospective analysis of
Autor:
Reena V. Kartha, Kyle Rudser, Jeanine Jarnes, Neal J. Weinreb, Roland Brown, Marcia R. Terluk, Usha Mishra, James C. Cloyd, Abigail Travis, Heather Lau
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100667-(2020)
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100667-(2020)
Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme, β-glucocerebrosidase. The resulting misfolded protein can trigger endoplasmic reticulum stress and an unfolde
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100606-(2020)
Gaucher disease (GD; OMIM 230800 ) is a lysosomal storage disorder caused by a deficiency in acid beta-glucosidase as a result of mutation in the GBA gene. Type 1 GD (GD1) is the most common form and its clinical manifestations include severe hematol
Autor:
Zoya Panahloo, Ida Vanessa Doederlein Schwartz, Ari Zimran, Lydie Renault, Ozlem Goker-Alpan, Priya S. Kishnani, Patrick Deegan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde
Autor:
Yi-Chen Yeh, Wen-Jue Soong, Tsui-Feng Yang, Chuan-Chi Chiang, Dau-Ming Niu, Hui-Chen Ho, Chia-Feng Yang, Man-Hsu Huang, Tzu-Hung Chu, Szu-Yin Tseng, Hsuan-Chieh Liao
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background: This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy (ERT) for 19 months and then developed multiple Gaucheroma. Review of literature was performed simultaneously. Methods: The m
Autor:
Tsutomu Shimada, Shunji Tomatsu, Eriko Yasuda, Kenji E. Orii, Yasuyuki Suzuki, Miho Maeda, Pravin Patel, Tadao Orii
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 5-18 (2014)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Children with mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, an X-linked disorder, suffer from a multisystem dysfunction caused by the accumulation of glycosaminoglycans. However, there has been no systemic report on the growth of
Autor:
Mao, Shao-Jia1 (AUTHOR), Chen, Qing-Qing1 (AUTHOR), Dai, Yang-Li1 (AUTHOR), Dong, Guan-Ping1 (AUTHOR), Zou, Chao-Chun1 (AUTHOR) zcc14@zju.edu.cn
Publikováno v:
Italian Journal of Pediatrics. 10/8/2024, Vol. 50 Issue 1, p1-10. 10p.
Autor:
Corazolla, Eleonore M.1,2,3 (AUTHOR), Eskes, Eline C. B.1,3 (AUTHOR), Veldwijk, Jorien4,5 (AUTHOR), Brands, Marion M. M. G.3,6 (AUTHOR), Dekker, Hanka7 (AUTHOR), van de Mheen, Erica8 (AUTHOR), Langeveld, Mirjam1,3 (AUTHOR), Hollak, Carla E. M.1,3 (AUTHOR), Sjouke, Barbara3,9 (AUTHOR) barbara.sjouke@radboudumc.nl
Publikováno v:
Orphanet Journal of Rare Diseases. 10/3/2024, Vol. 19 Issue 1, p1-16. 16p.
Autor:
Janpipatkul, Keatdamrong1 (AUTHOR), Sutjarit, Nareerat2 (AUTHOR), Tangprasittipap, Amornrat3 (AUTHOR), Chaiamarit, Tai4 (AUTHOR), Innachai, Pawarit3 (AUTHOR), Suksen, Kanoknetr4 (AUTHOR), Chokpanuwat, Tanida4 (AUTHOR), Tim-Aroon, Thipwimol5 (AUTHOR), Anurathapan, Usanarat5 (AUTHOR), Jearawiriyapaisarn, Natee6 (AUTHOR), Tubsuwan, Alisa6 (AUTHOR), Bowornpinyo, Supareak7,8 (AUTHOR), Asavapanumas, Nithi9 (AUTHOR), Chairoungdua, Arthit4,8 (AUTHOR), Bhukhai, Kanit4 (AUTHOR) kanit.bhu@mahidol.ac.th, Hongeng, Suradej5,8 (AUTHOR)
Publikováno v:
Orphanet Journal of Rare Diseases. 10/2/2024, Vol. 19 Issue 1, p1-14. 14p.
Autor:
Zhang, Xuxiang1 (AUTHOR), Wu, Heng2,3 (AUTHOR), Tang, Beisha1,2,4,5,6,7,8 (AUTHOR), Guo, Jifeng1,4,5,6,7,8 (AUTHOR) guojifeng@csu.edu.cn
Publikováno v:
Translational Neurodegeneration. 9/12/2024, Vol. 13 Issue 1, p1-21. 21p.