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Quoted phrase not found in phrase index: "Deficiency of butyryl-CoA dehydrogenase"
Page 1
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 …
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
van Maldegem BT, Duran M, Wanders RJ, Waterham HR, Wijburg FA.
van Maldegem BT, et al.
Pediatr Res. 2010 Mar;67(3):304-8. doi: 10.1203/PDR.0b013e3181cbd57b.
Pediatr Res. 2010.
PMID: 19952864
Clinical Trial.
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inborn error, biochemically characterized by increased plasma butyrylcarnitine (C4-C) concentration and increased ethylmalonic acid (EMA) excretion and caused by rare mutations a …
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an inborn error, biochemically characteri …
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Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency.
Suzuki Y, Ito S, Otani Y, Nishikawa A, Eto K, Hara K, Oguni H, Nagata S.
Suzuki Y, et al.
Brain Dev. 2021 May;43(5):657-660. doi: 10.1016/j.braindev.2021.01.001. Epub 2021 Feb 3.
Brain Dev. 2021.
PMID: 33549404
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Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency.
Turpin B, Tobias JD.
Turpin B, et al.
Paediatr Anaesth. 2005 Sep;15(9):771-7. doi: 10.1111/j.1460-9592.2005.01507.x.
Paediatr Anaesth. 2005.
PMID: 16101709
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Healing of a Chronic Pressure Injury in a Patient Treated With Medical Cannabis for Pain and Sleep Improvement: A Case Report.
Diaz PL, Katz TM, Langleben AC, Rabinovitch BS, Lewis EC.
Diaz PL, et al.
Wound Manag Prev. 2021 Oct;67(10):42-47.
Wound Manag Prev. 2021.
PMID: 35030093
Free article.
METHODS: A 37-year-old woman with multiminicore disease, scoliosis, short-chain acyl-CoA dehydrogenase deficiency, and epilepsy presented to the Neurology Centre of Toronto with chronic pain and sleep disturbance, including difficulty ini …
METHODS: A 37-year-old woman with multiminicore disease, scoliosis, short-chain acyl-CoA dehydrogenase …
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