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Items: 8

1.

Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.

Alfardan J, Mohsen AW, Copeland S, Ellison J, Keppen-Davis L, Rohrbach M, Powell BR, Gillis J, Matern D, Kant J, Vockley J.

Mol Genet Metab. 2010 Aug;100(4):333-8. doi: 10.1016/j.ymgme.2010.04.014. Epub 2010 May 23.

2.

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J.

Pediatrics. 2003 Jul;112(1 Pt 1):74-8. Review.

PMID:
12837870
3.

Inborn errors of isoleucine degradation: a review.

Korman SH.

Mol Genet Metab. 2006 Dec;89(4):289-99. Epub 2006 Sep 6. Review.

PMID:
16950638
4.

Glutaric aciduria type 1 and neonatal screening: time to proceed--with caution.

Superti-Furga A.

Eur J Pediatr. 2003 Dec;162 Suppl 1:S17-20. Epub 2003 Oct 25. Review.

PMID:
14579152
5.

Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

Lindner M, K├Âlker S, Schulze A, Christensen E, Greenberg CR, Hoffmann GF.

J Inherit Metab Dis. 2004;27(6):851-9. Review.

PMID:
15505392
6.

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
7.

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.

Vockley J, Ensenauer R.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. Review.

8.

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Goodman SI, Stein DE, Schlesinger S, Christensen E, Schwartz M, Greenberg CR, Elpeleg ON.

Hum Mutat. 1998;12(3):141-4. Review.

PMID:
9711871
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