Torresani T - Search Results

1

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples.

Fingerhut R, De Jesus Silva Arevalo G, Baumgartner MR, Häberle J, Rohrbach M, Figueroa AW, Fresse EM, Polanco OL, Torresani T. Fingerhut R, et al. Among authors: torresani t. J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S235-9. doi: 10.1007/s10545-010-9167-6. Epub 2010 Jul 21. J Inherit Metab Dis. 2010. PMID: 20652412

2

Retrospective analysis of stored dried blood spots from children with cystic fibrosis and matched controls to assess the performance of a proposed newborn screening protocol in Switzerland.

Barben J, Gallati S, Fingerhut R, Schoeni MH, Baumgartner MR, Torresani T; SWISS CF SCREENING GROUP. Barben J, et al. Among authors: torresani t. J Cyst Fibros. 2012 Jul;11(4):332-6. doi: 10.1016/j.jcf.2012.01.001. Epub 2012 Feb 1. J Cyst Fibros. 2012. PMID: 22300503 Free article.

3

Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.

Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, Baumgartner MR, Rohrbach M. Zimmermann M, et al. Among authors: torresani t. Mol Genet Metab. 2012 Jul;106(3):264-8. doi: 10.1016/j.ymgme.2012.04.016. Epub 2012 Apr 25. Mol Genet Metab. 2012. PMID: 22607939

4

Newborn screening for cystic fibrosis in Switzerland--consequences after analysis of a 4 months pilot study.

Torresani T, Fingerhut R, Rueegg CS, Gallati S, Kuehni CE, Baumgartner MR, Barben J; Swiss CF Screening Group. Torresani T, et al. J Cyst Fibros. 2013 Dec;12(6):667-74. doi: 10.1016/j.jcf.2013.04.008. Epub 2013 May 24. J Cyst Fibros. 2013. PMID: 23712087 Free article.

5

Filter paper cards contaminated with EMLA cream produce artefacts on acylcarnitine analysis.

Kuster T, Torresani T, Kleinert P, Durka S, Neuheiser F, Heizmann CW, Troxler H. Kuster T, et al. Among authors: torresani t. J Inherit Metab Dis. 2004;27(5):707-9. doi: 10.1023/b:boli.0000043024.08450.0c. J Inherit Metab Dis. 2004. PMID: 15669691

6

One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland.

Rueegg CS, Kuehni CE, Gallati S, Baumgartner M, Torresani T, Barben J; Swiss CF Screening Task Force. Rueegg CS, et al. Among authors: torresani t. Dtsch Arztebl Int. 2013 May;110(20):356-63. doi: 10.3238/arztebl.2013.0356. Epub 2013 May 17. Dtsch Arztebl Int. 2013. PMID: 23825488 Free PMC article.

7

Congenital adrenal hyperplasia: diagnostic advances.

Torresani T, Biason-Lauber A. Torresani T, et al. J Inherit Metab Dis. 2007 Aug;30(4):563-75. doi: 10.1007/s10545-007-0696-6. Epub 2007 Aug 10. J Inherit Metab Dis. 2007. PMID: 17694353 Free article.

8

High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland.

Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T. Steigert M, et al. Among authors: torresani t. J Clin Endocrinol Metab. 2002 Sep;87(9):4106-10. doi: 10.1210/jc.2002-012093. J Clin Endocrinol Metab. 2002. PMID: 12213856

9

Quality control requirements in neonatal screening.

Torresani T. Torresani T. Eur J Pediatr. 2003 Dec;162 Suppl 1:S54-6. doi: 10.1007/s00431-003-1353-1. Epub 2003 Nov 28. Eur J Pediatr. 2003. PMID: 14648213

10

First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17alpha-hydroxyprogesterone in blood spots.

Elvers LH, Loeber JG, Dhondt JL, Fukushi M, Hannon WH, Torresani T, Webster D. Elvers LH, et al. Among authors: torresani t. J Inherit Metab Dis. 2007 Aug;30(4):609. doi: 10.1007/s10545-007-0622-y. Epub 2007 Jun 14. J Inherit Metab Dis. 2007. PMID: 17574536

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