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Molecular Genetics and Metabolism|October 17, 2017
Propionyl-CoA carboxylase - A reviewParith Wongkittichote, Nicholas Ah Mew, Kimberly A Chapman
Journal of Human Genetics|January 31, 2021
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patientsParith Wongkittichote, Daniel J Wegner, Marwan S Shinawi
Journal of Inherited Metabolic Disease|October 12, 2012
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiencyParith Wongkittichote, Sumalee Tungpradabkul, Duangrurdee Wattanasirichaigoon, et al.
Frontiers in Genetics|July 5, 2022
Case Report: A Novel <i>EIF2B3</i> Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White MatterParith Wongkittichote, Soe Soe Mar, Robert C McKinstry, et al.
JIMD Reports|March 6, 2024
Clinical, biochemical and molecular characterization of a new case with <i>FDX2</i>-related mitochondrial disorder: Potential biomarkers and treatment optionsParith Wongkittichote, Cassandra Pantano, Miao He, et al.
American Journal of Medical Genetics. Part A|February 4, 2025
KLK11-Related Disorder of Cornification Presenting as Inflammatory Skin Disease: A Familial Case Report and Literature ReviewWongsathorn Eiumtrakul, Sanchawan Wittayakornrerk, Parith Wongkittichote, et al.
American Journal of Medical Genetics. Part A|March 26, 2026
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature ReviewOwen Yu, Christine Moore, Kevin Carratu, et al.
World Journal of Gastroenterology|November 28, 2013
Screening of SLC25A13 mutation in the Thai populationParith Wongkittichote, Chonlaphat Sukasem, Atsuo Kikuchi, et al.
Molecular Genetics and Metabolism|March 13, 2023
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretorParith Wongkittichote, Xinying Hong, Stephen R Master, et al.
Molecular Genetics and Metabolism Reports|April 15, 2021
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infantParith Wongkittichote, Garland Michael Upchurch, Louis P Dehner, et al.
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