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 |
---|---|
1985 | 1 |
1994 | 1 |
2001 | 1 |
2006 | 1 |
2013 | 1 |
2014 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Screening for defects of branched-chain amino acid metabolism.
Eur J Pediatr. 1994;153(7 Suppl 1):S62-7. doi: 10.1007/BF02138780.
Eur J Pediatr. 1994.
PMID: 7957389
Review.
This report will summarize clinical and metabolite features and enzymological methods available for the diagnosis of the more common defects of branched-chain amino acid metabolism, including isovaleryl-CoA dehydrogenase deficiency, 3-methylcrotonyl-Co …
This report will summarize clinical and metabolite features and enzymological methods available for the diagnosis of the more common defects …
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
Moorthie S, Cameron L, Sagoo GS, Bonham JR, Burton H.
Moorthie S, et al.
J Inherit Metab Dis. 2014 Nov;37(6):889-98. doi: 10.1007/s10545-014-9729-0. Epub 2014 Jul 15.
J Inherit Metab Dis. 2014.
PMID: 25022222
Review.
Item in Clipboard
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
Vockley J, Ensenauer R.
Vockley J, et al.
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. doi: 10.1002/ajmg.c.30089.
Am J Med Genet C Semin Med Genet. 2006.
PMID: 16602101
Free PMC article.
Review.
Item in Clipboard
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Gregersen N.
Gregersen N.
Scand J Clin Lab Invest Suppl. 1985;174:1-60.
Scand J Clin Lab Invest Suppl. 1985.
PMID: 3892650
Review.
The acyl-CoA dehydrogenation process is comprised of three enzymes, i.e. acyl-CoA dehydrogenase (isovaleryl-CoA, isobutyryl-CoA/2-Me-butyryl-CoA, short-chain acyl-CoA, general (medium-chain) acyl-CoA, long-chain acyl-CoA or glutaryl-CoA), electron transfer flavoprotein (ETF) and …
The acyl-CoA dehydrogenation process is comprised of three enzymes, i.e. acyl-CoA dehydrogenase (isovaleryl-CoA, isobutyryl-CoA/2-Me-butyryl …
Item in Clipboard
Defects in amino acid catabolism and the urea cycle.
Hoffmann GF, Kölker S.
Hoffmann GF, et al.
Handb Clin Neurol. 2013;113:1755-73. doi: 10.1016/B978-0-444-59565-2.00046-0.
Handb Clin Neurol. 2013.
PMID: 23622399
Review.
Item in Clipboard
[Acidemia, isovaleric].
Matsubara Y.
Matsubara Y.
Ryoikibetsu Shokogun Shirizu. 2001;(33):95-6.
Ryoikibetsu Shokogun Shirizu. 2001.
PMID: 11462734
Review.
Japanese.
No abstract available.
Item in Clipboard
Cite
Cite