Tortorelli S - Search Results

1

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.

2

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.

3

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

4

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

5

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

6

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.

Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Majumdar R, et al. Among authors: tortorelli s. Mol Genet Genomic Med. 2017 Nov;5(6):795-799. doi: 10.1002/mgg3.333. Epub 2017 Sep 11. Mol Genet Genomic Med. 2017. PMID: 29178637 Free PMC article.

7

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

8

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

9

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

10

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC. Blackburn PR, et al. Among authors: tortorelli s. Hum Mutat. 2016 Oct;37(10):1097-105. doi: 10.1002/humu.23047. Epub 2016 Aug 8. Hum Mutat. 2016. PMID: 27397503 Free PMC article.

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