Associated Papers
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome.
Norouzi Rostami F et al.
Heliyon, 2024
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim MJ et al.
Annals of Laboratory Medicine, 2023
36544340 (PubMed )
Supplement: alm-43-3-280-supple.xlsx › Table_S2
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M et al.
Human Genome Variation, 2022
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2020
31967322 (PubMed )
Supplement: JIMD-43-819-s004.xlsx › Sheet1
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes.
Lee JS et al.
Clinical Genetics, 2020
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M et al.
Annals of Clinical and Translational Neurology, 2019
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa E et al.
Journal of Inherited Metabolic Disease, 2017
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