Tortorelli S - Search Results

1

Newborn screening of metabolic disorders: recent progress and future developments.

Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D. Rinaldo P, et al. Among authors: tortorelli s. Nestle Nutr Workshop Ser Pediatr Program. 2008;62:81-93; discussion 93-6. doi: 10.1159/000146253. Nestle Nutr Workshop Ser Pediatr Program. 2008. PMID: 18626194 Review.

2

Recent developments and new applications of tandem mass spectrometry in newborn screening.

Rinaldo P, Tortorelli S, Matern D. Rinaldo P, et al. Among authors: tortorelli s. Curr Opin Pediatr. 2004 Aug;16(4):427-33. doi: 10.1097/01.mop.0000133635.79661.84. Curr Opin Pediatr. 2004. PMID: 15273505 Review.

3

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. Tortorelli S, et al. Mol Genet Metab. 2005 Feb;84(2):137-43. doi: 10.1016/j.ymgme.2004.09.016. Epub 2004 Nov 19. Mol Genet Metab. 2005. PMID: 15670719

4

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: tortorelli s. 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

5

Making the case for objective performance metrics in newborn screening by tandem mass spectrometry.

Rinaldo P, Zafari S, Tortorelli S, Matern D. Rinaldo P, et al. Among authors: tortorelli s. Ment Retard Dev Disabil Res Rev. 2006;12(4):255-61. doi: 10.1002/mrdd.20130. Ment Retard Dev Disabil Res Rev. 2006. PMID: 17183573

6

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Oglesbee D, et al. Among authors: tortorelli s. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Genet Med. 2007. PMID: 17304052

7

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007).

Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Matern D, et al. Among authors: tortorelli s. J Inherit Metab Dis. 2007 Aug;30(4):585-92. doi: 10.1007/s10545-007-0691-y. Epub 2007 Jul 23. J Inherit Metab Dis. 2007. PMID: 17643193

8

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Oglesbee D, et al. Among authors: tortorelli s. Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4. Clin Chem. 2008. PMID: 18178665

9

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Turgeon C, et al. Among authors: tortorelli s. Clin Chem. 2008 Apr;54(4):657-64. doi: 10.1373/clinchem.2007.101949. Epub 2008 Feb 15. Clin Chem. 2008. PMID: 18281422

10

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Bonilla Guerrero R, et al. Among authors: tortorelli s. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16. J Inherit Metab Dis. 2008. PMID: 19089597

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