Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Kah Wai Chong"'
Autor:
Dau Ming Niu, Ju Hui Hsu, Huey Jane Ho, Pi Chang Lee, Hsiang-Yu Lin, Hsiao Chi Yu, Po Kang Lin, Shuan-Pei Lin, Cheng Hung Huang, Kah Wai Chong, Shih Jen Chen, Kang Hsiang Cheng, Chuan Chi Chiang
Publikováno v:
Journal of Inherited Metabolic Disease. 33:619-624
Newborn screening for Fabry disease in Taiwan Chinese has revealed a high incidence of the late-onset GLA mutation IVS4 + 919G→A (∼1 in 1,500–1,600 males). We studied 94 adults with this mutation [22 men, 72 women; mean age: men 57.8 ± 6.0 (ra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ead30e689ddd73adcf2220dc505eee30
https://doi.org/10.1007/s10545-010-9166-7
https://doi.org/10.1007/s10545-010-9166-7
Autor:
Cheng Hung Huang, Chuan-Hong Kao, Ming-Yu Lo, Yung-Hsiu Lu, Hsiao-Chi Yu, Ju-Hui Hsu, Kah-Wai Chong, Tjin-Shing Jap, Dau-Ming Niu
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 94:5045-5052
Background: Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. Although only 44 mutations of the human TG gene have been identified, we have suspected a TG defect in 38% of Taiwan Chinese children/adolescents presenting with mode
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4993dace0df4a0dcaf55f0be0b24b68c
https://doi.org/10.1210/jc.2009-0646
https://doi.org/10.1210/jc.2009-0646
Publikováno v:
Human genetics. 127(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::1a9c2bbfc6840ed95b84ded7d1853467
https://pubmed.ncbi.nlm.nih.gov/20108438
https://pubmed.ncbi.nlm.nih.gov/20108438
Autor:
Kah-Wai Chong, 張家維
98
Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. The estimated incidence of Fabry disease is about 1 in 50,000 males. Cardiac variant of Fabry disease is an atyp
Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient α-galactosidase A (α-Gal A) activity. The estimated incidence of Fabry disease is about 1 in 50,000 males. Cardiac variant of Fabry disease is an atyp
Externí odkaz:
http://ndltd.ncl.edu.tw/handle/71581869331776565655
Autor:
Hsiang-Yu Lin, Huey Jane Ho, Hsiao Chi Yu, Cheng Hung Huang, Kang Hsiang Cheng, Pi Chang Lee, Ju Hui Hsu, Chun Che Shih, Kah Wai Chong, Dau Ming Niu, Chen Huan Chen, Chuen Hsueh, Shing Jong Lin, Chuan Chi Chiang, Chuan Hong Kao
Publikováno v:
Circulation. Cardiovascular genetics. 2(5)
Background— Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed. Methods and Results— To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07d7753f170355c8f2074fc158cb889c
https://pubmed.ncbi.nlm.nih.gov/20031620
https://pubmed.ncbi.nlm.nih.gov/20031620
Autor:
Dau Ming Niu, Hsiao Chi Yu, Tina Jui Ting Wu, Kah Wai Chong, Ju Hui Hsu, Ming Yu Lo, Lisa E. Kratz, Low Tone Ho, Cheng Hung Huang, Ching Fai Kwok
Publikováno v:
Journal of inherited metabolic disease. 33(4)
The clinical observation and treatment of young children with sitosterolemia has rarely been reported. We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c7115b81a1c9ade82029ffc7878e295
https://pubmed.ncbi.nlm.nih.gov/20521169
https://pubmed.ncbi.nlm.nih.gov/20521169