Matern D - Search Results

1

Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.

Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N. Iacobazzi V, et al. Among authors: matern d. Am J Med Genet A. 2004 Apr 15;126A(2):150-5. doi: 10.1002/ajmg.a.20573. Am J Med Genet A. 2004. PMID: 15057979

2

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.

3

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

4

Acylcarnitine profile analysis.

Rinaldo P, Cowan TM, Matern D. Rinaldo P, et al. Among authors: matern d. Genet Med. 2008 Feb;10(2):151-6. doi: 10.1097/GIM.0b013e3181614289. Genet Med. 2008. PMID: 18281923 Free article.

5

Fatty acid oxidation disorders.

Rinaldo P, Matern D, Bennett MJ. Rinaldo P, et al. Among authors: matern d. Annu Rev Physiol. 2002;64:477-502. doi: 10.1146/annurev.physiol.64.082201.154705. Annu Rev Physiol. 2002. PMID: 11826276 Review.

6

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.

7

Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation.

Schuler AM, Gower BA, Matern D, Rinaldo P, Wood PA. Schuler AM, et al. Among authors: matern d. Mol Genet Metab. 2004 Dec;83(4):322-9. doi: 10.1016/j.ymgme.2004.08.010. Mol Genet Metab. 2004. PMID: 15589119

8

Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation.

Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA. Schuler AM, et al. Among authors: matern d. Mol Genet Metab. 2005 May;85(1):7-11. doi: 10.1016/j.ymgme.2004.09.006. Epub 2005 Feb 16. Mol Genet Metab. 2005. PMID: 15862275

9

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.

10

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

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