Clinical and laboratory findings and outcomes of classic organic acidurias in children from north-eastern Thailand: A 5-year retrospective study

by Khunton Wichajarn, Somporn Liammongkolkul, Nithiwat Vatanavicharn, Duangrurdee Wattanasirichaigoon
Published 2018

Amino acid disorders detected by quantitative amino acid HPLC analysis in Thailand: An eight-year experience

by Nithiwat Vatanavicharn, Pisanu Ratanarak, Somporn Liammongkolkul, Achara Sathienkijkanchai, Pornswan Wasant
Published 2018

Retrospective study of patients with suspected inborn errors of metabolism at Siriraj Hospital, Bangkok, Thailand (1997-2001)

by Pornswan Wasant, Nithiwat Vatanavicharn, Chantragan Srisomsap, Phannee Sawangareetrakul, Somporn Liammongkolkul, Jisnuson Svasti
Published 2018

Factors influencing development of down syndrome children in the first three years of life: Siriraj experience

by Pornswan Wasant, Boonchai Boonyawat, Samruay Tritilanunt, Nithiwat Vatanavicharn, Achara Sathienkijakanchai, Pisanu Ratanarak, Onanong Malilum, Somporn Liammongkolkul
Published 2018

Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia

by Phannee Sawangareetrakul, James R. Ketudat Cairns, Nithiwat Vatanavicharn, Somporn Liammongkolkul, Pornswan Wasant, Jisnuson Svasti, Voraratt Champattanachai
Published 2018

An economic evaluation of neonatal screening for inborn errors of metabolism using tandem mass spectrometry in Thailand

by Kittiphong Thiboonboon, Pattara Leelahavarong, Duangrurdee Wattanasirichaigoon, Nithiwat Vatanavicharn, Pornswan Wasant, Vorasuk Shotelersuk, Suthipong Pangkanon, Chulaluck Kuptanon, Sumonta Chaisomchit, Yot Teerawattananon
Published 2018

Molecular characterization of Thai patients with phenylalanine hydroxylase deficiency and in vitro functional study of two novel PAH variants

by Lukana Ngiwsara, Nithiwat Vatanavicharn, Phannee Sawangareetrakul, Somporn Liammongkolkul, Pisanu Ratanarak, Boonchai Boonyawat, Chantragan Srisomsap, Voraratt Champattanachai, James Ketudat-Cairns, Pornswan Wasant, Jisnuson Svasti
Published 2022

BMPER mutation in Diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing

by Vincent 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
Published 2018

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

by Nithiwat 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
Published 2018

Infantile onset Sandhoff disease: clinical manifestation and a novel common mutation in Thai patients

by Thipwimol 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
Published 2022

Hypomorphic mutations of TRIP11 cause odontochondrodysplasia

by Anika 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
Published 2020