Výsledky vyhledávání - "Vanessa Loi‐Yan Chu"

Akademický článek

High FGF‐21 level in a cohort of 22 patients with Dravet Syndrome—Possible relationship with the disease outcomes

Autor: Anna Ka‐Yee Kwong, Virginia Chun‐Nei Wong, Sheila Suet‐Na Wong, Vanessa Loi‐Yan Chu, Saskia Koene, Jan Smeitink, Cheuk‐Wing Fung

Publikováno v: Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)

Abstract Objective Dravet syndrome (DS) is a severe and intractable form of epilepsy with prolonged seizures which may evolve to other seizure types and associated with mild‐to‐severe intellectual disabilities. Fibroblast growth factor 21 (FGF‐

Externí odkaz: https://doaj.org/article/ade30fff07e044ef82b2ff57c48f25fe

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High FGF-21 level in a cohort of 22 patients with Dravet Syndrome-Possible relationship with the disease outcomes

Autor: Virginia Wong, Anna Ka-Yee Kwong, Cheuk-Wing Fung, Vanessa Loi-Yan Chu, Jan A.M. Smeitink, Saskia Koene, Sheila Suet-Na Wong

Publikováno v: Epilepsia Open, Vol 6, Iss 4, Pp 685-693 (2021)
Epilepsia Open
Epilepsia Open, 6, 685-693
Epilepsia Open, 6, 4, pp. 685-693

Contains fulltext : 241407.pdf (Publisher’s version ) (Open Access) OBJECTIVE: Dravet syndrome (DS) is a severe and intractable form of epilepsy with prolonged seizures which may evolve to other seizure types and associated with mild-to-severe inte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e39996b061f24c2f163f5895ad350f
https://doi.org/10.1002/epi4.12534

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ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

Autor: Richard J. Rodenburg, Cheuk-Wing Fung, Jan A.M. Smeitink, Anna Ka-Yee Kwong, Vanessa Loi-Yan Chu

Publikováno v: Brain & Development, 41, 883-887
Brain & Development, 41, 10, pp. 883-887

Background ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. Methods We studied a family with a 13-year old Chinese boy and his two elder brothers presented with i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf77b0d27d1e08195fdc6916fea7d02
https://doi.org/10.1016/j.braindev.2019.07.003

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