Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Behshad Charkhand"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss , Pp - (2019)
Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neur
Externí odkaz:
https://doaj.org/article/491428c4575e4025934c51504e1fa8ee
Publikováno v:
Journal of Clinical Neurophysiology. 39:529-537
The infantile spasms (IS) syndrome is a catastrophic developmental epileptic encephalopathy syndrome characterized by an age-specific expression of epileptic spasms that are associated with extremely abnormal, oftentimes described as chaotic, interic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9ff5bfcbd7cf84e2d6453c48f3e2c91
https://doi.org/10.1097/wnp.0000000000000496
https://doi.org/10.1097/wnp.0000000000000496
Autor:
Chunlong Mu, Jane Shearer, Christine Williams-Dyjur, Wendie N. Marks, Morris H. Scantlebury, Anamika Choudhary, Behshad Charkhand, Jong M. Rho, Karlene T. Barrett
Publikováno v:
Brain Communications. 3
Infantile spasms (IS) syndrome is a catastrophic, epileptic encephalopathy of infancy that is often refractory to current antiepileptic therapies. The ketogenic diet (KD) has emerged as an alternative treatment for patients with medically intractable
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f23e1e110dbf6e398f4316381d1cd0d
https://doi.org/10.1093/braincomms/fcab189
https://doi.org/10.1093/braincomms/fcab189
Publikováno v:
Journal of Pediatric Neurology. 18:039-044
The infantile spasms (IS) syndrome is a developmental epileptic encephalopathy disorder characterized by epileptic spasms occurring in infancy, hypsarrhythmia on the electroencephalography (EEG) and developmental arrest or regression. The etiologies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::755eb7e7a92a9fc98dedf607a4479c0e
https://doi.org/10.1055/s-0039-1683436
https://doi.org/10.1055/s-0039-1683436
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 20, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Type 3 Gaucher disease (GD3) is characterized by progressive neurological features in addition to the typical systemic manifestations. Enzyme replacement therapy (ERT), the main stay treatment for Gaucher disease (GD), is not efficacious for the neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d21fa6c42958fef77f5b251336520ab
http://www.sciencedirect.com/science/article/pii/S2214426919300321
http://www.sciencedirect.com/science/article/pii/S2214426919300321