Zobrazeno 1 - 10 of 49 pro vyhledávání: '"Wing-Tat Poon"'
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Akademický článek
GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
Autor: Chi-Chun Ho, Lilian Li-Yan Tsung, Kam-Tim Liu, Wing-Tat Poon
Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
Abstract Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due
Externí odkaz: https://doaj.org/article/a4b7291b8f9a449080e9a4df6c16efc9
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GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
Autor: Kam-Tim Liu, Chi-Chun Ho, Wing-Tat Poon, Lilian Li-Yan Tsung
Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-7 (2018)
BMC Medical Genetics
Background Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive condition is due to disrup
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0308fa51848e79f1104a4620d2ebd7f9
https://doi.org/10.1186/s12881-018-0679-5
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5
Additional file 1: of GNPTAB c.2404Câ >â T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
Autor: Chi-Chun Ho, Tsung, Lilian, Kam-Tim Liu, Wing-Tat Poon
Primers used for PCR and sequencing of GNPTAB gene. Eighteen pairs primers were designed with the help of in-house software AutoPrimer 1.0 ( https://github.com/autoprimer/1.0 or https://github.com/hkhcc/seq_processing for the latest developmental ver
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33da99501053b88f691d165aa0c28e0b
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6
Comparison of Direct Sequencing, Real-Time PCR-High Resolution Melt (PCR-HRM) and PCR-Restriction Fragment Length Polymorphism (PCR-RFLP) Analysis for Genotyping of Common Thiopurine Intolerant Variant Alleles NUDT15 c.415C>T and TPMT c.719A>G (TPMT*3C)
Autor: Wai-Ying Fong, Chi-Chun Ho, Wing-Tat Poon
Publikováno v: Diagnostics; Volume 7; Issue 2; Pages: 27
Diagnostics
Thiopurine intolerance and treatment-related toxicity, such as fatal myelosuppression, is related to non-function genetic variants encoding thiopurine S-methyltransferase (TPMT) and Nudix hydrolase 15 (NUDT15). Genetic testing of the common variants
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ec8039aa82cc839718cf5b78e85ead
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7
Rapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing
Autor: Victor Wai-Lun Tang, Chi-Chun Ho, Shuk-Mui Tai, Timothy Kam-Tim Liu, Timothy Shin Heng Mak, Edmond Chi-Nam Lee, Wing-Tat Poon
Publikováno v: International Journal of Molecular Sciences, Vol 18, Iss 4, p 770 (2017)
International Journal of Molecular Sciences
Charcot-Marie-Tooth disease (CMT) is a common inherited peripheral neuropathy affecting up to 1 in 1214 of the general population with more than 60 nuclear genes implicated in its pathogenesis. Traditional molecular diagnostic pathways based on relat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::116ef9f8ddebe504d41b56e327c5a0dd
http://www.mdpi.com/1422-0067/18/4/770
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8
Electronic chemical pathology consultation service and dried blood spot metabolic screening in hospital patients
Autor: Chui-Kwan Au, Chor-Kwan Ching, Kong Tse, Ching-Wan Lam, Hencher Han-Chih Lee, Ngai-Shan Kwong, Hon-Kit Lee, Chak-On Sham, Chun-Yiu Law, Wing-Tat Poon, Albert Yan-Wo Chan, Chi-Keung Wong, Chloe M Mak, Sammy Pak-Lam Chen, Sam Yeung, Wai-Kwan Siu
Publikováno v: Journal of Clinical Pathology. 65:1141-1145
Aim Inborn errors of metabolism (IEM) are an unpopular and difficult subject and most clinicians are unfamiliar with them. Although chemical pathologists have a long-standing practice in advising test strategy and result interpretation especially fro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d15741efb68059c2e11851acef31ad0
https://doi.org/10.1136/jclinpath-2012-200837
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Budd-Chiari syndrome secondary to toxic pyrrolizidine alkaloid exposure
Autor: Janet S W Wu, M. L. Chen, Tony W L Mak, Wing-Tat Poon, C K Ma, H B Chan, K S Pang
Publikováno v: Hong Kong Medical Journal. :553-555
In this report, we describe a case of pyrrolizidine alkaloid-related Budd-Chiari syndrome in Hong Kong. A 10-month-old boy presented with ascites, right pleural effusion, and hepatomegaly after consumption of herbal drinks for 3 months. His clinical
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e83d65cd10dcf789dd9a6341ab173a3
https://doi.org/10.12809/hkmj133779
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Recurrent Thrombotic Thrombocytopenic Purpura in a Young Boy With Systemic Lupus Erythematosus
Autor: Lai-kei Yuen, Man-chun Chiu, Wai-ming Lai, Wing-tat Poon, Pak-chiu Tong, Kei-Chiu Tse
Publikováno v: JCR: Journal of Clinical Rheumatology. 13:224-228
Thrombotic thrombocytopenic purpura (TTP) is a rare but potentially fatal disease in childhood. The association of microangiopathic hemolytic anemia, schistocytes, and thrombocytopenia without fever, neurologic, and renal involvement is sufficient to
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a8809320ee01eac41f640c0a657470
https://doi.org/10.1097/rhu.0b013e318133a476
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