Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementatio...
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychological deficits have been seen in HT1 patients. These deficits a...
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Full title
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1
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TN_cdi_plos_journals_1943093937
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1943093937
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0185342
