Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Pisanu Ratanarak"'
Autor:
Chantragan Srisomsap, Pisanu Ratanarak, Voraratt Champattanachai, Phannee Sawangareetrakul, Boonchai Boonyawat, Lukana Ngiwsara, Nithiwat Vatanavicharn, James R. Ketudat-Cairns, Jisnuson Svasti, Somporn Liammongkolkul, Pornswan Wasant
Publikováno v:
Molecular Biology Reports. 48:2063-2070
Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7a02ba14e723a47f8e2e2767eae2068e
https://doi.org/10.1007/s11033-021-06163-w
https://doi.org/10.1007/s11033-021-06163-w
Autor:
Lukana, Ngiwsara, Nithiwat, Vatanavicharn, Phannee, Sawangareetrakul, Somporn, Liammongkolkul, Pisanu, Ratanarak, Boonchai, Boonyawat, Chantragan, Srisomsap, Voraratt, Champattanachai, James, Ketudat-Cairns, Pornswan, Wasant, Jisnuson, Svasti
Publikováno v:
Molecular biology reports. 48(3)
Phenylketonuria (PKU) is an autosomal recessive amino acid metabolism disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH; EC1.14.16.1). This study aimed to assess the specific heterogeneity of PAH variants found in Thai p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f622454736c6a5b7bc01b6072f40b424
https://pubmed.ncbi.nlm.nih.gov/33677757
https://pubmed.ncbi.nlm.nih.gov/33677757
Autor:
Achara Sathienkijkanchai, Pisanu Ratanarak, Somporn Liammongkolkul, Nithiwat Vatanavicharn, Pornswan Wasant
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 413(13-14)
Background Amino acid disorders are a major group of inborn errors of metabolism (IEM) with variable clinical presentations. This study was aimed to provide the data of amino acid disorders detected in high-risk Thai patients referred to our metaboli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb6829c7889e361d153906cbebc94b09
https://pubmed.ncbi.nlm.nih.gov/22465081
https://pubmed.ncbi.nlm.nih.gov/22465081
Autor:
Pornswan Wasant, Somporn Liammongkolkul, Tumtip Sangruchi, Seiji Yamaguchi, Chulaluck Kuptanon, Pisanu Ratanarak, Nithiwat Vattanavicharn
Publikováno v:
Pediatric neurology. 43(4)
Reported here is a novel presentation of late onset glutaric aciduria type 2 in two Thai siblings. A 9-year-old boy presented with gradual onset of proximal muscle weakness for 6 weeks. The initial diagnosis was postviral myositis, and then polymyosi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::630f02f3cbb8e50040b001bff83af9d5
https://pubmed.ncbi.nlm.nih.gov/20837308
https://pubmed.ncbi.nlm.nih.gov/20837308
Autor:
Pornswan, Wasant, Boonchai, Boonyawat, Samruay, Tritilanunt, Nithiwat, Vatanavicharn, Achara, Sathienkijakanchai, Pisanu, Ratanarak, Onanong, Malilum, Somporn, Liammongkolkul
Publikováno v:
Journal of the Medical Association of Thailand = Chotmaihet thangphaet. 91(7)
To analyze factors influencing development of Down syndrome children in the first three years of life.A cross-sectional study was conducted in 100 Down syndrome (DS) children attending at the Genetics clinic, Department of Pediatrics, Siriraj Hospita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ab19325f06e1303818043bf4a000f595
https://pubmed.ncbi.nlm.nih.gov/18839841
https://pubmed.ncbi.nlm.nih.gov/18839841