- ... see-reference><see-reference >Riboflavin</see-reference><see-reference >Thiamine</see-reference><see-reference >Vitamin B</see-reference>< ...
- ... 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 ...
- ... Genetic Cause View in own window Gene Treatment References / GeneReview DLAT Ketogenic diet Thiamine (300-1000 mg/day) has been used w/ ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- Brain diseases affect different functions of the body from memory, speech, thinking clearly, how well the different organs work, or even movement. ... Your brain ...
- 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 ...
- ... 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 ...
- ... 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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