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55 results
  1. ... click here . National Library of Medicine Genetics Home Reference Biotin-thiamine-responsive basal ganglia disease Molecular Genetics Information in ... Locus-Specific Databases HGMD ClinVar SLC19A3 2q36 ​.3 Thiamine transporter ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. ... and Diseases from OMIM BASAL GANGLIA DISEASE, BIOTIN-THIAMINE RESPONSIVE; BTBGD Scientific Articles on PubMed PubMed References Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, ...
  3. ... Genetic Cause View in own window Gene Treatment References / GeneReview DLAT Ketogenic diet Thiamine (300-1000 mg/day) has been used w/ ...
  4. ... NORD) Catalog of Genes and Diseases from OMIM THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA Scientific Articles on PubMed PubMed References Baron D, Assaraf YG, Cohen N, Aronheim A. ...
  5. ... posted live 25 August 2003 (ejn) Original submission References Literature Cited Abboud MR, Alexander D, Najjar SS. Diabetes mellitus, thiamine-dependent megaloblastic anemia, and sensorineural deafness associated with ...
  6. ... and Diseases from OMIM SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 2; SLC19A2 Gene and Variant Databases NCBI Gene ClinVar References Baron D, Assaraf YG, Cohen N, Aronheim A. ...
  7. ... and Diseases from OMIM SOLUTE CARRIER FAMILY 19 (THIAMINE TRANSPORTER), MEMBER 3; SLC19A3 Gene and Variant Databases NCBI Gene ClinVar References Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, ...
  8. ... Specific Databases HGMD ClinVar SLC25A19 17q25 ​.1 Mitochondrial thiamine pyrophosphate carrier SLC25A19 database SLC25A19 SLC25A19 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  9. ... Diseases from OMIM SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL THIAMINE PYROPHOSPHATE CARRIER), MEMBER 19; SLC25A19 Gene and Variant Databases NCBI Gene ClinVar References Dolce V, Fiermonte G, Runswick MJ, Palmieri F, ...
  10. ... gov: Riboflavin (National Institutes of Health) ClinicalTrials.gov: Thiamine (National Institutes of Health) ClinicalTrials.gov: Vitamin B Complex (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
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