Associated Papers
Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.
Al Khudari R et al.
Orphanet Journal of Rare Diseases, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
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
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M et al.
Human Genome Variation, 2022
The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.
Wesół-Kucharska D et al.
Pediatric Endocrinology, Diabetes, and Metabolism, 2022
Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
Wesół-Kucharska D et al.
Molecular Genetics and Metabolism Reports, 2021
Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.
Wang J et al.
Frontiers in Genetics, 2021
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 Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.
Savasta S et al.
Journal of Pediatric Genetics, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review.
Alfadhel M et al.
Neuropediatrics, 2018
SLC19A3 related disorder: Treatment implication and clinical outcome of 2 new patients.
Tonduti D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.
Gowda VK et al.
Indian Journal of Pediatrics, 2018
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
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice.
Suzuki K et al.
Plos One, 2017
Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.
Alfadhel M
Journal of Central Nervous System Disease, 2017
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 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
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Ortigoza-Escobar JD et al.
Orphanet Journal of Rare Diseases, 2014
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
Schänzer A et al.
Brain Pathology (zurich, Switzerland), 2014
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2013
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH et al.
Brain : a Journal of Neurology, 2013
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.
Vernau KM et al.
Plos One, 2013
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.
Yamada K et al.
Bmc Medical Genetics, 2010
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2.
Subramanian VS et al.
American Journal of Physiology. Cell Physiology, 2006
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.
Zeng WQ et al.
American Journal of Human Genetics, 2005
Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.
Oommen AT et al.
Neurology India, 0