Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Yew Sing Choy"'
Autor:
Shuan-Pei Lin, Antony Fu, Albert D. Yang, Motomichi Kosuga, Hsiang-Yu Lin, Shanti Balasubramaniam, Teck-Hock Toh, Meow-Keong Thong, Verasak Thamkunanon, Dong-Kyu Jin, Nancy J. Mendelsohn, Kaustuv Bhattacharya, Hasri Samion, Young Hee Kwun, Torayuki Okuyama, Anita Inwood, Ok Hwa Kim, Akemi Tanaka, Adeline Tan, Michael Fietz, Yew Sing Choy, Jim McGill
Publikováno v:
Molecular Genetics and Metabolism. 115:41-47
Mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome) is caused by deficient activity of the enzyme, N-acetylgalactosamine-4-sulfatase, resulting in impaired degradation of the glycosaminoglycan dermatan sulfate. Patients experience a range of m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646f5ee618dea52abe5c76154a7c9a3d
https://doi.org/10.1016/j.ymgme.2015.03.005
https://doi.org/10.1016/j.ymgme.2015.03.005
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 29(9)
Background The aim of this study was to determine the feasibility of performing newborn screening (NBS) of inborn errors of metabolism (IEMs) using tandem mass spectrometry (TMS) and the impact on its detection rate in Malaysia. Methods During the st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2a50fdbf7ca0e511313a51b7810332d
https://pubmed.ncbi.nlm.nih.gov/27544719
https://pubmed.ncbi.nlm.nih.gov/27544719
Autor:
Lu Liu, John A. McGrath, Yew Sing Choy, Patricia J.C. Dopping-Hepenstal, Vesarat Wessagowit, Hiva Fassihi, Linda Ozoemena
Publikováno v:
Journal of Dermatological Science. 44:48-51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::32efadca3acb24ad3ba420f57ce9dd3a
https://doi.org/10.1016/j.jdermsci.2006.05.009
https://doi.org/10.1016/j.jdermsci.2006.05.009
Autor:
James McGill, Shanti Balasubramaniam, Anita Inwood, Shuan-Pei Lin, Torayuki Okuyama, Dong Kyu Jin, Adeline Tan, Akemi Tanaka, Hsiang-Yu Lin, Verasak Thamkunanon, Albert D. Yang, Young Hee Kwun, Nancy J. Mendelsohn, Hasri Samion, Kaustuv Bhattacharya, Michael Fietz, Motomichi Kosuga, Ok Hwa Kim, Yew Sing Choy, Teck-Hock Toh, Antony Fu
Publikováno v:
Orphanet Journal of Rare Diseases
Background Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76c8b6c3272986dd575854c7564842f4
http://europepmc.org/articles/PMC4279997
http://europepmc.org/articles/PMC4279997
Publikováno v:
Journal of Pediatric Endocrinology & Metabolism; Sep2016, Vol. 29 Issue 9, p1031-1039, 9p
Autor:
Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Yew Sing Choy, Fietz, Michael, Antony Fu, Dong Kyu Jin, Ok-Hwa Kim, Motomichi Kosuga, Young Hee Kwun, Inwood, Anita, Hsiang-Yu Lin, McGill, Jim, Mendelsohn, Nancy J, Torayuki Okuyama, Samion, Hasri, Adeline Tan, Akemi Tanaka, Verasak Thamkunanon, Teck-Hock Toh, Yang, Albert D
Publikováno v:
Orphanet Journal of Rare Diseases; 2014, Vol. 9 Issue 1, p192-202, 11p, 4 Black and White Photographs, 1 Diagram, 1 Chart, 1 Graph
Autor:
Mary Pat Reeve, Joon Chung, Dorota Domańska-Pakieła, Penelope S. Roberts, Jolanta Kasprzyk-Obara, Elizabeth A. Thiele, Sandra L. Dabora, Andres Nieto, John C. Egelhoff, David J. Kwiatkowski, Sergiusz Jozwiak, Yew-Sing Choy, David Neal Franz
Publikováno v:
The American Journal of Human Genetics. (1):64-80
Tuberous sclerosis (TSC) is a relatively common hamartoma syndrome caused by mutations in either of two genes, TSC1 and TSC2. Here we report comprehensive mutation analysis in 224 index patients with TSC and correlate mutation findings with clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab9facf02507ba97dd97c3ec08d0bfce