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Results: 12

1.

Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center's experience.

Pena L, Angle B, Burton B, Charrow J.

Genet Med. 2012 Mar;14(3):342-7. doi: 10.1038/gim.2011.9. Epub 2012 Jan 5.

PMID:
22241096
[PubMed - indexed for MEDLINE]
2.

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.

Knerr I, Weinhold N, Vockley J, Gibson KM.

J Inherit Metab Dis. 2012 Jan;35(1):29-40. doi: 10.1007/s10545-010-9269-1. Epub 2011 Feb 3. Review.

PMID:
21290185
[PubMed - indexed for MEDLINE]
3.

Isobutyryl-CoA dehydrogenase deficiency with a novel ACAD8 gene mutation detected by tandem mass spectrometry newborn screening.

Yoo EH, Cho HJ, Ki CS, Lee SY.

Clin Chem Lab Med. 2007;45(11):1495-7.

PMID:
17924841
[PubMed - indexed for MEDLINE]
4.

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D.

Genet Med. 2007 Feb;9(2):108-16.

PMID:
17304052
[PubMed - indexed for MEDLINE]
5.

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS.

Pediatr Res. 2006 Sep;60(3):315-20. Epub 2006 Jul 20.

PMID:
16857760
[PubMed - indexed for MEDLINE]
6.

Biochemical findings in common inborn errors of metabolism.

Pasquali M, Monsen G, Richardson L, Alston M, Longo N.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):64-76. Review.

PMID:
16602099
[PubMed - indexed for MEDLINE]
7.

Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.

Sass JO, Sander S, Zschocke J.

J Inherit Metab Dis. 2004;27(6):741-5.

PMID:
15505379
[PubMed - indexed for MEDLINE]
8.

Structures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenases.

Battaile KP, Nguyen TV, Vockley J, Kim JJ.

J Biol Chem. 2004 Apr 16;279(16):16526-34. Epub 2004 Jan 28.

PMID:
14752098
[PubMed - indexed for MEDLINE]
Free Article
9.

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS.

Pediatr Res. 2003 Aug;54(2):219-23. Epub 2003 May 7.

PMID:
12736383
[PubMed - indexed for MEDLINE]
10.

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.

Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79.

PMID:
12359132
[PubMed - indexed for MEDLINE]
11.

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F.

Am J Hum Genet. 2000 Nov;67(5):1095-103. Epub 2000 Sep 29.

PMID:
11013134
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Isolated isobutyryl-CoA dehydrogenase deficiency: an unrecognized defect in human valine metabolism.

Roe CR, Cederbaum SD, Roe DS, Mardach R, Galindo A, Sweetman L.

Mol Genet Metab. 1998 Dec;65(4):264-71.

PMID:
9889013
[PubMed - indexed for MEDLINE]

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