Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jocelyn Lorenzo"'
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 6, Pp 1170-1173 (2022)
Background: Hemophagocytic lymphohistiocytosis (HLH) is a potentially fatal hyperinflammatory condition that presents with fever, hepatosplenomegaly, and characteristic laboratory findings. Mutations in the perforin gene PRF1 have been implicated in
Externí odkaz:
https://doaj.org/article/cd31e47e41d2458b990f44eb1839522b
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::603eae42f5f581365cec124c174dc2ca
https://doi.org/10.1212/wnl.0000000000202861
https://doi.org/10.1212/wnl.0000000000202861
Publikováno v:
Journal of Child Neurology. 36:1086-1094
Objective: MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4fd8f6c58599a9c80c1b6bb5dc66d5e0
https://doi.org/10.1177/08830738211030804
https://doi.org/10.1177/08830738211030804
Publikováno v:
Journal of child neurology. 36(12)
In this case series, the authors describe the electroclinical features of children with MECP2DS presenting to their institution. In addition, they reviewed seizure types and therapies used.Eight out of 9 patients with MECP2DS developed epilepsy, with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::604bd51fa10976a849f11794a6e496c4
https://pubmed.ncbi.nlm.nih.gov/34486423
https://pubmed.ncbi.nlm.nih.gov/34486423
Publikováno v:
Neuroimmunology Reports. 2:100070
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cc04520dbbb1a335e7401c6c3606bd67
https://doi.org/10.1016/j.nerep.2022.100070
https://doi.org/10.1016/j.nerep.2022.100070
Autor:
Sangita Basnet, Ryan Majcina, Jocelyn Lorenzo, Giovanna Caprirolo, Randall Robbs, Anwar Shafi, Kimberly Powell
Publikováno v:
Critical Care Medicine. 47:685
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3eaddfc25851d32814f8a9ec10b29341
https://doi.org/10.1097/01.ccm.0000552161.73990.25
https://doi.org/10.1097/01.ccm.0000552161.73990.25
Publikováno v:
Critical Care Medicine. 47:386
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a0660c513948368d22a392372e5b89ab
https://doi.org/10.1097/01.ccm.0000551564.83912.be
https://doi.org/10.1097/01.ccm.0000551564.83912.be