Associated Papers
Structural insights into substrate binding of SLC19A3: Comparing inward-open and outward-open conformations.
Zhang E et al.
International Journal of Biological Macromolecules, 2025
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.
Magro G et al.
Biomedicines, 2025
Retrospective chart review of inherited and idiopathic dystonia.
Alakkas A et al.
Frontiers in Genetics, 2025
Rare Diseases Linked to Mutations in Vitamin Transporters Expressed in the Human Blood-Brain Barrier.
Yee SW et al.
Clinical Pharmacology and Therapeutics, 2024
Structural basis of thiamine transport and drug recognition by SLC19A3.
Gabriel F et al.
Nature Communications, 2024
Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.
Alowaysi M et al.
Human Cell, 2024
Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.
Karachaliou CE et al.
International Journal of Molecular Sciences, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Developing of Biotin-Thiamine Responsive Basal Ganglia Disease after Accidental Ingestion of Ethyl Alcohol: A Case Report.
Aldosari AN et al.
Journal of Epilepsy Research, 2023
Vitamin B1 deficiency leads to high oxidative stress and mtDNA depletion caused by SLC19A3 mutation in consanguineous family with Leigh syndrome.
Felhi R et al.
Metabolic Brain Disease, 2023
Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
Aburezq M et al.
Orphanet Journal of Rare Diseases, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.
Alsini H et al.
Brain & Development, 2022
Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M et al.
Bioscience Reports, 2022
Biotin-thiamine responsive basal ganglia disease in the era of COVID-19 outbreak diagnosis not to be missed: A case report.
Al-Anezi A et al.
Brain & Development, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Kim SH et al.
Pediatric Neurology, 2019
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
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder.
Mir A et al.
Pediatric Neurology, 2018
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M et al.
Neuropediatrics, 2018
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance.
Alabdulqader MA et al.
Child Neurology Open, 2018
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia.
Eichler FS et al.
The New England Journal of Medicine, 2017
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.
Whitford W et al.
Cold Spring Harbor Molecular Case Studies, 2017
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD et al.
Annals of Neurology, 2017
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data.
Ferreira CR et al.
American Journal of Medical Genetics. Part A, 2017
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.
Algahtani H et al.
Neurological Research, 2017
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
Suzuki K et al.
Plos One, 2017
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended?
Aljabri MF et al.
Medicine, 2016
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
[Whole-Exome Sequencing for monogenic disorders affecting the orthopaedic system].
Imagawa E et al.
Clinical Calcium, 2016
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD et al.
Brain : a Journal of Neurology, 2016
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.
Kohrogi K et al.
Journal of Human Genetics, 2015
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.
Gerards M et al.
Brain : a Journal of Neurology, 2014