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FEMS Yeast Research|November 12, 2019
Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1pChalongchai Chalermwat, Thitipa Thosapornvichai, Parith Wongkittichote, et al.
Scientific Reports|September 25, 2025
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in ThailandTasyakorn Damrongchietanon, Duangrurdee Wattanasirichaigoon, Arthaporn Khongkraparn, et al.
JIMD Reports|May 14, 2025
Atypical Presentation of <i>IARS1</i>-Related Disorder: Expanding the Phenotype and GenotypeParith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, et al.
Molecular Genetics and Metabolism|July 12, 2022
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationParith Wongkittichote, Martina Magistrati, Joshua S Shimony, et al.
Stem Cell Research|March 25, 2026
Establishment of MURAi007-A, a human induced pluripotent stem cell line from a patient with inherited retinal dystrophy carrying compound heterozygous mutations in the PNPLA6 geneTanida Chokpanuwat, Klodthida Yanukun, Pirut Thong-Ngam, et al.
Molecular Genetics and Metabolism|October 30, 2023
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkersParith Wongkittichote, Cassandra Pantano, Emily Bogush, et al.
Journal of Inherited Metabolic Disease|October 10, 2022
DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotypeIbrahim Elsharkawi, Parith Wongkittichote, Earnest James Paul Daniel, et al.
Orphanet Journal of Rare Diseases|October 25, 2024
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variantPanisara Lakkhana, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, et al.
Frontiers in Genetics|April 18, 2022
Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of <i>PLEC</i>, <i>LAMC2</i>, <i>ITGB4</i> and <i>COL7A1</i>Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, et al.
Molecular Genetics and Metabolism|May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
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