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Browsing by Author Nithiwat Vatanavicharn

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)
11-Jul-2012Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experienceNithiwat Vatanavicharn; Pisanu Ratanarak; Somporn Liammongkolkul; Achara Sathienkijkanchai; Pornswan Wasant; Mahidol University
1-Dec-2015Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic AcidemiaPhannee Sawangareetrakul; James R. Ketudat Cairns; Nithiwat Vatanavicharn; Somporn Liammongkolkul; Pornswan Wasant; Jisnuson Svasti; Voraratt Champattanachai; Chulabhorn Research Institute; Suranaree University of Technology; Mahidol University; Chulabhorn Graduate Institute
8-Oct-2010BMPER mutation in Diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencingVincent A. Funari; Deborah Krakow; Lisette Nevarez; Zugen Chen; Tara L. Funari; Nithiwat Vatanavicharn; William R. Wilcox; David L. Rimoin; Stanley F. Nelson; Daniel H. Cohn; Cedars-Sinai Medical Center; David Geffen School of Medicine at UCLA; Mahidol University
1-Feb-2017Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: A 5-year retrospective studyKhunton Wichajarn; Somporn Liammongkolkul; Nithiwat Vatanavicharn; Duangrurdee Wattanasirichaigoon; Khon Kaen University; Mahidol University
1-Aug-2012Clinical and molecular findings in Thai patients with isolated methylmalonic acidemiaNithiwat Vatanavicharn; Voraratt Champattanachai; Somporn Liammongkolkul; Phannee Sawangareetrakul; Siriporn Keeratichamroen; James R. Ketudat Cairns; Chantragan Srisomsap; Achara Sathienkijkanchai; Vorasuk Shotelersuk; Mahattana Kamolsilp; Duangrurdee Wattanasirichaigoon; Jisnuson Svasti; Pornswan Wasant; Mahidol University; Chulabhorn Research Institute; Suranaree University of Technology; Chulalongkorn University; King Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn University; Phramongkutklao College of Medicine
10-Aug-2015An economic evaluation of neonatal screening for inborn errors of metabolism using tandem mass spectrometry in ThailandKittiphong Thiboonboon; Pattara Leelahavarong; Duangrurdee Wattanasirichaigoon; Nithiwat Vatanavicharn; Pornswan Wasant; Vorasuk Shotelersuk; Suthipong Pangkanon; Chulaluck Kuptanon; Sumonta Chaisomchit; Yot Teerawattananon; Thailand Ministry of Public Health; Mahidol University; Chulalongkorn University
1-Jul-2008Factors influencing development of down syndrome children in the first three years of life: Siriraj experiencePornswan Wasant; Boonchai Boonyawat; Samruay Tritilanunt; Nithiwat Vatanavicharn; Achara Sathienkijakanchai; Pisanu Ratanarak; Onanong Malilum; Somporn Liammongkolkul; Mahidol University
7-Feb-2019Hypomorphic mutations of TRIP11 cause odontochondrodysplasiaAnika Wehrle; Tomasz M. Witkos; Sheila Unger; Judith Schneider; John A. Follit; Johannes Hermann; Tim Welting; Virginia Fano; Marja Hietala; Nithiwat Vatanavicharn; Katharina Schoner; Jürgen Spranger; Miriam Schmidts; Bernhard Zabel; Gregory J. Pazour; Agnes Bloch-Zupan; Gen Nishimura; Andrea Superti-Furga; Martin Lowe; Ekkehart Lausch; Université de Strasbourg; Universität Freiburg im Breisgau; Centre Hospitalier Universitaire Vaudois; Maastricht University; Hopital Civil; Mahidol University; Philipps-Universität Marburg; CHU Strasbourg; Turun yliopisto; University of Manchester; Fundacion Hospital de Pediatria Professor Dr. Juan P. Garrahan; University of Massachusetts Medical School; Tokyo Metropolitan Kiyose Children’s Hospital
1-Dec-2021Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patientsThipwimol Tim-Aroon; Khunton Wichajarn; Kamornwan Katanyuwong; Pranoot Tanpaiboon; Nithiwat Vatanavicharn; Kullasate Sakpichaisakul; Arthaporn Kongkrapan; Jakris Eu-ahsunthornwattana; Supranee Thongpradit; Kanya Moolsuwan; Nusara Satproedprai; Surakameth Mahasirimongkol; Tassanee Lerksuthirat; Bhoom Suktitipat; Natini Jinawath; Duangrurdee Wattanasirichaigoon; Rangsit University; Khon Kaen University; Faculty of Medicine, Ramathibodi Hospital, Mahidol University; Thailand Ministry of Public Health; Mahidol University; Faculty of Medicine, Siriraj Hospital, Mahidol University; Chiang Mai University; Children’s National Hospital
1-Jan-2021Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variantsLukana Ngiwsara; Nithiwat Vatanavicharn; Phannee Sawangareetrakul; Somporn Liammongkolkul; Pisanu Ratanarak; Boonchai Boonyawat; Chantragan Srisomsap; Voraratt Champattanachai; James Ketudat-Cairns; Pornswan Wasant; Jisnuson Svasti; Suranaree University of Technology; Chulabhorn Research Institute; Faculty of Medicine Siriraj Hospital, Mahidol University; Phramongkutklao College of Medicine
1-Jun-2005Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001)Pornswan Wasant; Nithiwat Vatanavicharn; Chantragan Srisomsap; Phannee Sawangareetrakul; Somporn Liammongkolkul; Jisnuson Svasti; Mahidol University