Matern D - Search Results

1

Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.

Ensenauer R, Tuchman M, El-Youssef M, Kotagal S, Ishitani MB, Matern D, Babovic-Vuksanovic D. Ensenauer R, et al. Among authors: matern d. Mol Genet Metab. 2005 Apr;84(4):363-6. doi: 10.1016/j.ymgme.2004.12.011. Mol Genet Metab. 2005. PMID: 15781198

2

Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcome.

Schwab KO, Ensenauer R, Matern D, Uyanik G, Schnieders B, Wanders RA, Lehnert W. Schwab KO, et al. Among authors: matern d. Eur J Pediatr. 2003 Feb;162(2):90-5. doi: 10.1007/s00431-002-1035-4. Epub 2003 Jan 9. Eur J Pediatr. 2003. PMID: 12548384

3

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

4

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. Ensenauer R, et al. Among authors: matern d. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.

5

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

6

Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.

Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Ensenauer R, et al. Among authors: matern d. Genet Med. 2005 May-Jun;7(5):339-43. doi: 10.1097/01.gim.0000164548.54482.9d. Genet Med. 2005. PMID: 15915086 Free article.

7

Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Magera MJ, et al. Among authors: matern d. Mol Genet Metab. 2006 May;88(1):16-21. doi: 10.1016/j.ymgme.2005.12.005. Epub 2006 Jan 31. Mol Genet Metab. 2006. PMID: 16448836

8

In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.

Merritt JL 2nd, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB. Merritt JL 2nd, et al. Among authors: matern d. Mol Genet Metab. 2006 Aug;88(4):351-8. doi: 10.1016/j.ymgme.2006.02.010. Epub 2006 Apr 18. Mol Genet Metab. 2006. PMID: 16621643

9

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.

Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH. Kroll CA, et al. Among authors: matern d. Mol Genet Metab. 2006 Sep-Oct;89(1-2):134-8. doi: 10.1016/j.ymgme.2006.03.008. Epub 2006 Apr 27. Mol Genet Metab. 2006. PMID: 16644258

10

Expanded newborn screening identifies maternal primary carnitine deficiency.

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: matern d. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586

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