Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Suthipong Pangkanon"'
Autor:
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
Abstract Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and molecular character
Externí odkaz:
https://doaj.org/article/20abc3ca858c4e58874ef006f623ebd5
Autor:
Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134782 (2015)
Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process called tandem mass spectrometry (MS/MS) can
Externí odkaz:
https://doaj.org/article/8c583c31f61c4cd4ab0393c1633c3b5c
Autor:
Duangrurdee Wattanasirichaigoon, Kitiwan Rojnueangnit, Suthipong Pangkanon, Thipwimol Tim-Aroon, Saisuda Noojaroen, Ratana Charoenwattanasatien, Voraratt Champattanachai, Jisnuson Svasti, Lukana Ngiwsara, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Arthaporn Khongkraparn, Chulaluck Kuptanon
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
BMC Medical Genetics
BMC Medical Genetics
BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in humanGAAgene. The objective of the present study was to examine clinical and molecular characteristics of in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7025b4896632a2cd016cfa1158bf5c67
http://link.springer.com/article/10.1186/s12881-019-0878-8
http://link.springer.com/article/10.1186/s12881-019-0878-8
Autor:
Ratana Charoenwattanasatien, Voraratt Champattanachai, Phannee Sawangareetrakul, Suthipong Pangkanon, Thipwimol Tim-Aroon, Jisnuson Svasti, Duangrurdee Wattanasirichaigoon, Lukana Ngiwsara, Chulaluck Kuptanon, James R. Ketudat-Cairns
Publikováno v:
Annals of human genetics. 82(3)
Background Mucopolysaccharidosis type I (MPS I) is a rare autosomal-recessive disorder caused by defects in alpha-L-iduronidase (IDUA), a lysosomal enzyme encoded by the IDUA gene. Herein, we characterized IDUA mutations underlying mucopolysaccharido
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ccb809ff2247a4e8ca48c5c3f2b6359
https://pubmed.ncbi.nlm.nih.gov/29282708
https://pubmed.ncbi.nlm.nih.gov/29282708
Autor:
Phannee Sawangareetrakul, Suthipong Pangkanon, Siriporn Keeratichamroen, Ratana Charoenwattanasatien, Pranoot Tanpaiboon, Duangrurdee Wattanasirichaigoon, Voraratt Champattanachai, James R. Ketudat Cairns, Jisnuson Svasti
Publikováno v:
Biochemical Genetics. 50:990-997
Hunter syndrome, or mucopolysaccharidosis type II (MPS II; MIM:309900), is a rare X-linked recessive lysosomal storage disorder caused by defects of the gene coding for iduronate-2-sulfatase (IDS; EC 3.1.6.13) (Bach et al. 1973). IDS catabolizes derm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99334e92a4fe0fc91ecdb8760e9309d7
https://doi.org/10.1007/s10528-012-9538-9
https://doi.org/10.1007/s10528-012-9538-9
Autor:
Jisnuson Svasti, Anannit Visudtibhan, Duangrurdee Wattanasirichaigoon, Suthipong Pangkanon, Siriporn Keeratichamroen, James R. Ketudat Cairns, Lukana Ngiwsara, P. Suwannarat
Publikováno v:
Blood Cells, Molecules, and Diseases. 39:348-352
Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficiency of the lysosomal enzyme glucocerebrosidase. Three clinical phenotypes, type 1, nonneuronopathic; and types 2 and 3, acute and subacute neuronopathic are recognized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c334db4e9c2346cd8523e66f9d9be55
https://doi.org/10.1016/j.bcmd.2007.06.015
https://doi.org/10.1016/j.bcmd.2007.06.015
Autor:
Sumonta Chaisomchit, Duangrurdee Wattanasirichaigoon, Suthipong Pangkanon, Nithiwat Vatanavicharn, Kittiphong Thiboonboon, Pornswan Wasant, Pattara Leelahavarong, Yot Teerawattananon, Chulaluck Kuptanon, Vorasuk Shotelersuk
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 8, p e0134782 (2015)
PLoS ONE, Vol 10, Iss 8, p e0134782 (2015)
© 2015 Thiboonboon et al. Background: Inborn errors of metabolism (IEM) are a rare group of genetic diseases which can lead to several serious long-term complications in newborns. In order to address these issues as early as possible, a process call
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b30b7eab21ddd118952af08ac5b7911
https://hdl.handle.net/10453/137949
https://hdl.handle.net/10453/137949
Autor:
Suthipong, Pangkanon, Siraporn, Sawasdivorn, Chulaluck, Kuptanon, Uraiwan, Chotigeat, Warunee, Vandepitte
Publikováno v:
Journal of the Medical Association of Thailand = Chotmaihet thangphaet. 97
Deaths attributed to birth defects are a major cause of infant and under-five mortality as well as lifetime disabilities among those who survive. In Thailand, birth defects contribute to 21% of neonatal deaths. There is currently no systematic regist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3185a818c0946ec139f7a5d94690b560
https://pubmed.ncbi.nlm.nih.gov/25391192
https://pubmed.ncbi.nlm.nih.gov/25391192
Publikováno v:
American Journal of Medical Genetics. 65:309-316
The DiGeorge (DG), velocardiofacial (VCF), and conotruncal anomaly-face (CTAF) syndromes were originally described as distinct disorders, although overlapping phenotypes have been recognized. It is now clear that all three syndromes result from appar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::912673ce737709297c2fb54e653e1fe2
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<309::aid-ajmg12>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19961111)65:4<309::aid-ajmg12>3.0.co
Autor:
Ngu Lock Hock, Dau Ming Niu, Yu Hsin Chang, Yanling Yang, J Ye, Jianhui Jiang, Mary Anne D. Chiong, Yoshiyuki Okano, Barbra V. Cavan, Chulaluck Kuptanon, Ying Chen Chang, Yen Hui Chiu, Suthipong Pangkanon, Dong Hwan Lee, Tze Tze Liu, Kwang-Jen Hsiao
Publikováno v:
Journal of human genetics. 57(2)
The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS, gene symbol: PTS) is involved in the second step of the de novo biosynthesis of tetrahydrobiopterin (BH4), which is a vital cofactor of nitric oxide synthases and three types of aromatic amino ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7742eb2cb783aaa083e66420353df81
https://pubmed.ncbi.nlm.nih.gov/22336887
https://pubmed.ncbi.nlm.nih.gov/22336887