Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1982 | 2 |
2010 | 1 |
2011 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
Quoted phrase not found in phrase index: "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts"
Page 1
Phenylbutyrate therapy for maple syrup urine disease.
Hum Mol Genet. 2011 Feb 15;20(4):631-40. doi: 10.1093/hmg/ddq507. Epub 2010 Nov 23.
Hum Mol Genet. 2011.
PMID: 21098507
Free PMC article.
Clinical Trial.
Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their corresponding alpha-keto acids (BCKA) in patients with classic and variant late-onset forms of maple syrup urine disease (MSUD). ...In vivo p …
Based on this clinical observation, we investigated the potential of phenylbutyrate treatment to lower BCAA and their corresponding …
Thiamin-responsive maple-syrup-urine disease: decreased affinity of the mutant branched-chain alpha-keto acid dehydrogenase for alpha-ketoisovalerate and thiamin pyrophosphate.
Chuang DT, Ku LS, Cox RP.
Chuang DT, et al.
Proc Natl Acad Sci U S A. 1982 May;79(10):3300-4. doi: 10.1073/pnas.79.10.3300.
Proc Natl Acad Sci U S A. 1982.
PMID: 6954481
Free PMC article.
Decarboxylation of alpha-keto[1-14C]isovalerate (KIV) by intact cells from a thiamin-responsive MSUD patient was at 30-40% of the normal rate with or without thiamin in the incubation medium. Under similar conditions, intact classical MSUD fibroblasts failed …
Decarboxylation of alpha-keto[1-14C]isovalerate (KIV) by intact cells from a thiamin-responsive MSUD patient was at 30-40% of …
Item in Clipboard
Biochemical basis of thiamin-responsive maple syrup urine disease.
Chuang DT, Ku LS, Cox RP.
Chuang DT, et al.
Trans Assoc Am Physicians. 1982;95:196-204.
Trans Assoc Am Physicians. 1982.
PMID: 7182976
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive MSUD was investigated in intact and disrupted fibroblast cultures from normal subjects and patients with various forms of MSUD. ...These findings demonstrate that the primary defect i …
The biochemical basis for the therapeutic effects of thiamin in thiamin-responsive MSUD was investigated in intact and disrupted fibrobla …
Item in Clipboard
Cite
Cite