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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 1 |
2011 | 1 |
2013 | 2 |
2014 | 1 |
2015 | 2 |
2024 | 0 |
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Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Mol Genet Metab. 2013 Sep-Oct;110(1-2):111-5. doi: 10.1016/j.ymgme.2013.03.021. Epub 2013 Apr 15.
Mol Genet Metab. 2013.
PMID: 23712021
Free PMC article.
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD), also called 2-methylbutyryl CoA dehydrogenase deficiency (2-MBCDD), is a disorder of l-isoleucine metabolism of uncertain clinical significance. SBCADD is inadvertently detected on expanded newborn screening …
Short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD), also called 2-methylbutyryl CoA dehydrogenase deficiency (2-MBCDD), is a di …
Anesthetic management of a patient with isovaleric acidemia.
Lam H, Kiberenge R, Nguyen T, Sobey JH, Austin T.
Lam H, et al.
A A Case Rep. 2015 Feb 1;4(3):37-8. doi: 10.1213/XAA.0000000000000096.
A A Case Rep. 2015.
PMID: 25642957
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Elevation of pivaloylcarnitine by sivelestat sodium in two children.
Yamada K, Kobayashi H, Bo R, Takahashi T, Hasegawa Y, Nakamura M, Ishige N, Yamaguchi S.
Yamada K, et al.
Mol Genet Metab. 2015 Nov;116(3):192-4. doi: 10.1016/j.ymgme.2015.09.009. Epub 2015 Sep 26.
Mol Genet Metab. 2015.
PMID: 26428892
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Surprising causes of C5-carnitine false positive results in newborn screening.
Boemer F, Schoos R, de Halleux V, Kalenga M, Debray FG.
Boemer F, et al.
Mol Genet Metab. 2014 Jan;111(1):52-4. doi: 10.1016/j.ymgme.2013.11.005. Epub 2013 Nov 19.
Mol Genet Metab. 2014.
PMID: 24291264
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N-carbamylglutamate treatment for acute neonatal hyperammonemia in isovaleric acidemia.
Kasapkara CS, Ezgu FS, Okur I, Tumer L, Biberoglu G, Hasanoglu A.
Kasapkara CS, et al.
Eur J Pediatr. 2011 Jun;170(6):799-801. doi: 10.1007/s00431-010-1362-9. Epub 2011 Jan 5.
Eur J Pediatr. 2011.
PMID: 21207059
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Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.
Wei CC, Lin WD, Tsai FJ, Wu JY, Peng CT, Tsai CH.
Wei CC, et al.
Acta Paediatr Taiwan. 2004 Jul-Aug;45(4):236-8.
Acta Paediatr Taiwan. 2004.
PMID: 15624372
Isovaleric acidemia (IVA), a recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase deficiency. Isovaleric acidemia may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting and altered mental sta …
Isovaleric acidemia (IVA), a recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase deficiency. …
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