Parith Wongkittichote

发表

Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

L. Dehner, G. Upchurch, T. Wood, 2021, Molecular genetics and metabolism reports.

Case Report: A Novel EIF2B3 Pathogenic Variant in Central Nervous System Hypomyelination/Vanishing White Matter

R. McKinstry, Hoanh Nguyen, S. Mar, 2022, Frontiers in Genetics.

Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

M. Shinawi, D. Wegner, Parith Wongkittichote, 2021, Journal of Human Genetics.

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

M. Baumgartner, M. Summar, Elena Pumbo, 2019, Molecular genetics and metabolism.

Propionyl-CoA carboxylase - A review.

N. Ah Mew, K. Chapman, Parith Wongkittichote, 2017, Molecular genetics and metabolism.

Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma

M. Miller-Thomas, Jennifer M. Strahle, Parith Wongkittichote, 2022, American journal of medical genetics. Part A.

Screening of SLC25A13 mutation in the Thai population.

W. Aekplakorn, L. T. Jensen, C. Sukasem, 2013, World journal of gastroenterology.

Fatal COVID‐19 infection in a patient with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency: A case report

P. Dickson, D. Grange, Parith Wongkittichote, 2020, JIMD reports.

Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1

D. Wattanasirichaigoon, Thitiporn Junhasavasdikul, Parith Wongkittichote, 2022, Frontiers in Genetics.

Over-expression of the peroxin Pex34p suppresses impaired acetate utilization in yeast lacking the mitochondrial aspartate/glutamate carrier Agc1p.

L. T. Jensen, J. Phillips, D. Wattanasirichaigoon, 2019, FEMS yeast research.

Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord

V. Narayanan, M. Shinawi, D. Koeberl, 2022, Clinical Genetics.

Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency

L. T. Jensen, D. Wattanasirichaigoon, S. Tungpradabkul, 2013, Journal of Inherited Metabolic Disease.

Novel LIAS variants in a patient with epilepsy and profound developmental disabilities.

L. T. Jensen, D. Grange, Judith L. Z. Weisenberg, 2023, Molecular genetics and metabolism.

2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.

S. Master, M. He, Xinying Hong, 2023, Molecular genetics and metabolism.

DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype

H. Freeze, M. Shinawi, M. He, 2022, Journal of inherited metabolic disease.

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities.

M. Shinawi, E. Bellacchio, C. Dallabona, 2023, Molecular genetics and metabolism.

Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.

Parith Wongkittichote, Matthew M. Demczko, Cassandra Pantano, 2023, Molecular genetics and metabolism.

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

R. Ganetzky, S. Master, D. Dietzen, 2023, JIMD reports.

BIOCHEMICAL CHARACTERIZATION OF THE PATIENTS WITH DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

R. Ganetzky, D. Grange, Parith Wongkittichote, 2023, Molecular Genetics and Metabolism.

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of Multiple Sulfatase Deficiency

A. Guerra, Parith Wongkittichote, Maximiliano Presa, 2024, bioRxiv.