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50 results
  1. ... see-reference><see-reference >Riboflavin</see-reference><see-reference >Thiamine</see-reference><see-reference >Vitamin B</see-reference>< ...
  2. ... 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 ...
  3. ... Genetic Cause View in own window Gene Treatment References / GeneReview DLAT Ketogenic diet Thiamine (300-1000 mg/day) has been used w/ ...
  4. ... 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 ...
  5. ... 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 ...
  6. ... 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 ...
  7. Brain diseases affect different functions of the body from memory, speech, thinking clearly, how well the different organs work, or even movement. ... Your brain ...
  8. Hearing problems can be temporary or permanent. About 2 or 3 out of every 1,000 children in the U.S. are born deaf or hard-of-hearing. ... Most children hear ...
  9. ... 2001 ]. These individuals may escape detection by NBS. Thiamine-Responsive MSUD It is not known with certainty ... Neuropsychiatric morbidity Strict & consistent metabolic control 4 Potential thiamine responsiveness 5 Consider a 4-wk trial of ...
  10. ... Biotinidase deficiency AR BTD Newborn screening Disorders of thiamine metabolism Biotin-thiamine-responsive basal ganglia disease AR ... and thus improve the prognosis considerably. Disorders of thiamine metabolism Biotin-thiamine-responsive basal ganglia disease typically ...
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