Zobrazeno 1 - 10
of 678
pro vyhledávání: '"Infantile onset"'
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:
Angie H. Fares, Ankit K. Desai, Laura E. Case, Cassie Sharon, Amy Klinepeter, Amelia Kirby, Matthew T. Lisi, Rebecca L. Koch, Priya S. Kishnani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101141- (2024)
Infantile-onset Pompe disease (IOPD) is caused by a deficiency in the enzyme acid alpha-glucosidase (GAA). It is characterized by severe and progressive hypertrophic cardiomyopathy and muscle weakness with death in the first 2 years of life if left u
Externí odkaz:
https://doaj.org/article/6ea6d9796f1448e0a4eef059199db424
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Degos disease also known as malignant atrophic papulosis (MAP), is an autoinflammatory disease that mainly affects small- to medium-sized arteries. Gastrointestinal and nervous system are most commonly affected systems. Herein, we reported a case of
Externí odkaz:
https://doaj.org/article/578ad5d31709448b9700d98760baa06d
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Objective ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts, among which autosomal recessive Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare phenotype. In this
Externí odkaz:
https://doaj.org/article/9b0e45994a0143849b3a029506bf0839
Autor:
Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-13 (2023)
Abstract Background Studies indicate that doses of alglucosidase alfa (ALGLU) higher than label dose (20 mg/kg every other week) improve clinical outcomes in infantile-onset Pompe disease (IOPD). We investigated data from the Pompe Registry to determ
Externí odkaz:
https://doaj.org/article/f51edb17c7c14d7581ff804925e1d0d8
Autor:
Santasree Banerjee, Qiang Zhao, Bo Wang, Jiale Qin, Xin Yuan, Ziwei Lou, Weizeng Zheng, Huanguo Li, Xiaojun Wang, Xiawei Cheng, Yu Zhu, Fan Lin, Fan Yang, Junyu Xu, Anjana Munshi, Parimal Das, Yuanfeng Zhou, Kausik Mandal, Yi Wang, Muhammad Ayub, Nobutaka Hirokawa, Yongmei Xi, Guangfu Chen, Chen Li
Publikováno v:
MedComm, Vol 5, Iss 4, Pp n/a-n/a (2024)
Abstract Motor proteins, encoded by Kinesin superfamily (KIF) genes, are critical for brain development and plasticity. Increasing studies reported KIF’s roles in neurodevelopmental disorders. Here, a 6 years and 3 months‐old Chinese boy with mar
Externí odkaz:
https://doaj.org/article/25c3f00d6b67461d890c5559d2da7df9
Autor:
Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background Pompe disease is a rare glycogen storage disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to glycogen deposition in multiple tissues. Infantile-onset Pompe disease (IOPD) patients present
Externí odkaz:
https://doaj.org/article/4d80c9ff956948ffb92f6bbfcbd5b9cb
Autor:
Ankit K. Desai, P. Brian Smith, John S. Yi, Amy S. Rosenberg, Trevor D. Burt, Priya S. Kishnani
Publikováno v:
Frontiers in Immunology, Vol 14 (2024)
IntroductionThe efficacy of enzyme replacement therapy (ERT) with alglucosidase alfa for infantile-onset Pompe disease (IOPD) is limited in some patients due to the development of high and sustained antibody titers (HSAT; ≥12,800).MethodsWe carried
Externí odkaz:
https://doaj.org/article/ec2469dc10d54eddb7249c22c74a9079
Autor:
Miao Pan, Justin Kurtz
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Signal transducer and activator of transcription 3 (STAT3) is a member of the STAT protein family implicated in the development of infantile-onset multisystem autoimmune disease. STAT3-related autoimmune disease is characterized by multiorgan autoimm
Externí odkaz:
https://doaj.org/article/2f36b156aecc4c20b2c5cc4e1ec770f2
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 17-22 (2023)
Abstract Infantile‐onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hype
Externí odkaz:
https://doaj.org/article/5f98fb1620e64e7e8aafb6076119f8d2