Tortorelli S - Search Results

1

Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.

Strauss KA, Brumbaugh J, Duffy A, Wardley B, Robinson D, Hendrickson C, Tortorelli S, Moser AB, Puffenberger EG, Rider NL, Morton DH. Strauss KA, et al. Among authors: tortorelli s. Mol Genet Metab. 2011 Sep-Oct;104(1-2):93-106. doi: 10.1016/j.ymgme.2011.07.003. Epub 2011 Jul 12. Mol Genet Metab. 2011. PMID: 21820344 Free article. Clinical Trial.

2

Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.

Hubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H. Hubbard WC, et al. Among authors: tortorelli s. Mol Genet Metab. 2006 Sep-Oct;89(1-2):185-7. doi: 10.1016/j.ymgme.2006.05.001. Epub 2006 Jul 7. Mol Genet Metab. 2006. PMID: 16828324

3

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

4

Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.

Sherman EA, Strauss KA, Tortorelli S, Bennett MJ, Knerr I, Morton DH, Puffenberger EG. Sherman EA, et al. Among authors: tortorelli s. Am J Hum Genet. 2008 Nov;83(5):604-9. doi: 10.1016/j.ajhg.2008.09.018. Am J Hum Genet. 2008. PMID: 18926513 Free PMC article.

5

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV. Hubbard WC, et al. Among authors: tortorelli s. Mol Genet Metab. 2009 Jul;97(3):212-20. doi: 10.1016/j.ymgme.2009.03.010. Epub 2009 Apr 1. Mol Genet Metab. 2009. PMID: 19423374

6

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D. Smith EH, et al. Among authors: tortorelli s. Mol Genet Metab. 2010 Jul;100(3):241-50. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8. Mol Genet Metab. 2010. PMID: 20434380

7

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

Turgeon CT, Moser AB, Mørkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S. Turgeon CT, et al. Among authors: tortorelli s. Mol Genet Metab. 2015 Jan;114(1):46-50. doi: 10.1016/j.ymgme.2014.11.013. Epub 2014 Nov 27. Mol Genet Metab. 2015. PMID: 25481105

8

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA. Wenger O, et al. Among authors: tortorelli s. Mol Genet Metab. 2020 Nov;131(3):316-324. doi: 10.1016/j.ymgme.2020.09.006. Epub 2020 Oct 3. Mol Genet Metab. 2020. PMID: 33127324

9

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

10

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

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