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Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Van Calcar SC, Baker MW, Williams P, Jones SA, Xiong B, Thao MC, Lee S, Yang MK, Rice GM, Rhead W, Vockley J, Hoffman G, Durkin MS. Van Calcar SC, et al. 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 …
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. …