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Items: 9

1.

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA.

JAMA. 2006 Aug 23;296(8):943-52.

PMID:
16926354
2.

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.

van Maldegem BT, Wanders RJ, Wijburg FA.

J Inherit Metab Dis. 2010 Oct;33(5):507-11. doi: 10.1007/s10545-010-9080-z. Epub 2010 Apr 29. Review.

3.

Short-Chain Acyl-CoA Dehydrogenase Deficiency.

Wolfe L, Jethva R, Oglesbee D, Vockley J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2011 Sep 22 [updated 2014 Aug 7].

4.

Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.

Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.

Hum Genet. 2010 Jun;127(6):619-28. doi: 10.1007/s00439-010-0822-7. Epub 2010 Apr 8. Review.

PMID:
20376488
5.

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Nochi Z, Olsen RKJ, Gregersen N.

J Inherit Metab Dis. 2017 Sep;40(5):641-655. doi: 10.1007/s10545-017-0047-1. Epub 2017 May 17. Review.

PMID:
28516284
6.

Short-chain acyl-coenzyme A dehydrogenase deficiency.

Jethva R, Bennett MJ, Vockley J.

Mol Genet Metab. 2008 Dec;95(4):195-200. doi: 10.1016/j.ymgme.2008.09.007. Epub 2008 Nov 5. Review.

7.

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.

Tajima G, Sakura N, Yofune H, Nishimura Y, Ono H, Hasegawa Y, Hata I, Kimura M, Yamaguchi S, Shigematsu Y, Kobayashi M.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Sep 5;823(2):122-30. Review.

PMID:
16046200
8.

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.

Dezateux C.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S25-8. Epub 2003 Nov 20. Review.

PMID:
14628139
9.

Data required for the evaluation of newborn screening programmes.

Liebl B, Nennstiel-Ratzel U, Roscher A, von Kries R.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S57-61. Epub 2003 Nov 13. Review.

PMID:
14615887

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