Matern D - Search Results

1

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS. Young SP, et al. Among authors: matern d. Clin Chim Acta. 2003 Nov;337(1-2):103-13. doi: 10.1016/j.cccn.2003.07.006. Clin Chim Acta. 2003. PMID: 14568186

2

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Matern D, et al. Eur J Pediatr. 2002 Oct;161 Suppl 1:S10-9. doi: 10.1007/s00431-002-0998-5. Epub 2002 Jul 27. Eur J Pediatr. 2002. PMID: 12373566

3

In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.

Schowalter DB, Matern D, Vockley J. Schowalter DB, et al. Among authors: matern d. Mol Genet Metab. 2005 Jun;85(2):88-95. doi: 10.1016/j.ymgme.2005.02.006. Epub 2005 Mar 19. Mol Genet Metab. 2005. PMID: 15896652

4

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Among authors: matern d. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

5

A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.

Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Among authors: matern d. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630

6

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: matern d. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805

7

Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Sharer JD, De Biase I, Matern D, Young S, Bennett MJ, Tolun AA; ACMG Laboratory Quality Assurance Committee. Sharer JD, et al. Among authors: matern d. Genet Med. 2018 Dec;20(12):1499-1507. doi: 10.1038/s41436-018-0328-6. Epub 2018 Oct 19. Genet Med. 2018. PMID: 30459394 Free article.

8

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.

Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. Nagan N, et al. Among authors: matern d. Mol Genet Metab. 2003 Apr;78(4):239-46. doi: 10.1016/s1096-7192(03)00034-9. Mol Genet Metab. 2003. PMID: 12706374

9

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding CO. Gillingham MB, et al. Among authors: matern d. Mol Genet Metab. 2003 Jun;79(2):114-23. doi: 10.1016/s1096-7192(03)00073-8. Mol Genet Metab. 2003. PMID: 12809642 Free PMC article. Clinical Trial.

10

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. Matern D, et al. Pediatrics. 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. Pediatrics. 2003. PMID: 12837870 Review.

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