Zobrazeno 1 - 10 of 21 pro vyhledávání: '"Suet Na Wong"'
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Akademický článek
CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers
Autor: Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101023- (2024)
With the rapid advancement of medical technologies in genomic and molecular medicine, the number of treatable neurometabolic diseases is quickly expanding. Spastic paraplegia 56 (SPG56), one of the severe autosomal recessive forms of neurodegenerativ
Externí odkaz: https://doaj.org/article/3f9340edc6f641e7b32c95cdf0c3bfbd
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3
Akademický článek
Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey
Autor: Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung
Publikováno v: International Journal of Neonatal Screening, Vol 10, Iss 1, p 23 (2024)
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding
Externí odkaz: https://doaj.org/article/9e174954a012423e9418a84e92790b6e
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4
Akademický článek
Quality of life and symptom burden in children with neurodegenerative diseases: using PedsQL and SProND, a new symptom-based scale
Autor: Annie Ting Gee Chiu, Sheila Suet Na Wong, Naomi Wing Tung Wong, Wilfred Hing Sang Wong, Winnie Wan Yee Tso, Cheuk Wing Fung
Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
Abstract Background Children with neurodegenerative conditions (CNDC) often suffer from severe neurodisability and high symptom burden with multisystemic involvement. However, their symptom burden and health-related quality of life (HRQOL) is not sys
Externí odkaz: https://doaj.org/article/cf6d7de17d3d426b9abd00bfd9be49db
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5
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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7
Akademický článek
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Autor: Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung
Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 15-22 (2021)
Abstract Background d‐lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d‐lactate dehydrogenase. Excessive amount of d‐lactate causes d‐lactate acidosi
Externí odkaz: https://doaj.org/article/d3d8fb8cbd854161a741aac0b1687b6b
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9
Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area
Autor: Yeow-Kuan Chong, Lai-Ka Lee, Tsz-ki Ling, Han-Chih Hencher Lee, Chun-Hung Ko, Candace Yim Chan, Ching-Wan Lam, Chloe Mak, Nike Kwai-Cheung Lau, Cheuk-Wing Fung, Sheila Suet-Na Wong, Sidney Tam, Chun-yiu Law, K M Cheung, Chi-Kong Lai, Kin-Cheong Eric Yau, Albert Y W Chan, Ka-chung Wong
Publikováno v: Clinica Chimica Acta. 521:40-44
Background Aromatic L-amino acid decarboxylase deficiency is a rare neurometabolic disease due to impaired decarboxylation of neurotransmitter precursors to its active form. Case: We retrospectively reviewed 8 cases from 2008 to 2019 with cerebrospin
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc11642968b04a807262772013c3e60e
https://doi.org/10.1016/j.cca.2021.06.025
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10
Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency
Autor: Cheuk-Wing Fung, Anna Ka-Yee Kwong, Jan A.M. Smeitink, Sheila Suet-Na Wong, Godfrey Chi-Fung Chan, Richard J. Rodenburg
Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 15-22 (2021)
JIMD Reports
Jimd Reports, 60, 15-22
Jimd Reports, 60, 1, pp. 15-22
Contains fulltext : 237483.pdf (Publisher’s version ) (Open Access) BACKGROUND: d-lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d-lactate dehydrogenase.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e12a0373638e4b6434bf65e8a114a7f9
https://doaj.org/article/d3d8fb8cbd854161a741aac0b1687b6b
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