Propionyl-CoA carboxylase–a review P Wongkittichote, NA Mew, KA Chapman Molecular genetics and metabolism 122 (4), 145-152, 2017 | 206 | 2017 |
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria P Wongkittichote, G Cunningham, ML Summar, E Pumbo, P Forny, ... Molecular genetics and metabolism 128 (4), 444-451, 2019 | 28 | 2019 |
Screening of SLC25A13 mutation in the Thai population P Wongkittichote, C Sukasem, A Kikuchi, W Aekplakorn, LT Jensen, ... World Journal of Gastroenterology: WJG 19 (43), 7735, 2013 | 21 | 2013 |
Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency P Wongkittichote, S Tungpradabkul, D Wattanasirichaigoon, LT Jensen Journal of inherited metabolic disease 36, 821-830, 2013 | 21 | 2013 |
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients P Wongkittichote, DJ Wegner, MS Shinawi Journal of Human Genetics 66 (7), 717-724, 2021 | 13 | 2021 |
Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report P Wongkittichote, JR Watson, JM Leonard, ER Toolan, PI Dickson, ... JIMD reports 56 (1), 40-45, 2020 | 10 | 2020 |
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency P Wongkittichote, SR Cuddapah, SR Master, DK Grange, D Dietzen, ... JIMD reports 64 (5), 367-374, 2023 | 8 | 2023 |
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities P Wongkittichote, MLD Lasio, M Magistrati, S Pathak, B Sample, ... Molecular genetics and metabolism 139 (4), 107630, 2023 | 7 | 2023 |
Novel LIAS variants in a patient with epilepsy and profound developmental disabilities P Wongkittichote, C Chhay, G Zerafati-Jahromi, JL Weisenberg, A Mian, ... Molecular genetics and metabolism 138 (3), 107373, 2023 | 6 | 2023 |
Epidermolysis bullosa with congenital absence of skin: congenital corneal cloudiness and esophagogastric obstruction including extended genotypic spectrum of PLEC, LAMC2, ITGB4 … P Pongmee, S Wittayakornrerk, R Lekwuttikarn, S Pakdeeto, ... Frontiers in Genetics 13, 847150, 2022 | 5 | 2022 |
DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype I Elsharkawi, P Wongkittichote, EJP Daniel, RT Starosta, K Ueda, BG Ng, ... Journal of inherited metabolic disease 46 (1), 92-100, 2023 | 4 | 2023 |
Overexpression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p C Chalermwat, T Thosapornvichai, P Wongkittichote, JD Phillips, JE Cox, ... FEMS Yeast Research 19 (8), foz078, 2019 | 4 | 2019 |
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: lysine and tryptophan … P Wongkittichote, C Pantano, E Bogush, CAP Alves, X Hong, M He, ... Molecular Genetics and Metabolism 140 (1-2), 107710, 2023 | 3 | 2023 |
Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma P Wongkittichote, JS Kondis, LM Peglar, JM Strahle, M Miller‐Thomas, ... American Journal of Medical Genetics Part A 188 (5), 1538-1544, 2022 | 3 | 2022 |
Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant P Wongkittichote, GM Upchurch, LP Dehner, T Wood, JL Granadillo Molecular Genetics and Metabolism Reports 27, 100747, 2021 | 3 | 2021 |
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord P Wongkittichote, TI Choi, OH Kim, K Riley, D Koeberl, V Narayanan, ... Clinical genetics 103 (2), 167-178, 2023 | 2 | 2023 |
A 3-year-old girl with acute liver failure and status epilepticus P Wongkittichote, DJ Dietzen, DK Grange, SM Roper Clinical Chemistry 68 (11), 1471-1474, 2022 | 2 | 2022 |
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG) RT Starosta, AJ Lee, ER Toolan, M He, P Wongkittichote, EJP Daniel, ... Molecular genetics and metabolism, 108488, 2024 | 1 | 2024 |
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation P Wongkittichote, M Magistrati, JS Shimony, CD Smyser, SA Fatemi, ... Molecular genetics and metabolism 136 (4), 260-267, 2022 | 1 | 2022 |
Ultra-Performance Liquid Chromatography–Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and … P Wongkittichote, SH Cho, A Miller, K King, ZM Herbst, Z Ren, MH Gelb, ... Clinical Chemistry 70 (6), 865-877, 2024 | | 2024 |