1 to 10 of 11 literature results

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

  While screening Old Order Amish children for glutaric aciduria type 1 (GA1) between 1989 and 1993, we found three healthy children who excreted abnorm…

  Authors: Eric A Sherman, Kevin A Strauss, Silvia Tortorelli, Michael J Bennett, Ina Knerr, D Holmes Morton, Erik G Puffenberger

  Source: American journal of human genetics. 2008 Nov

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• 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).

  BACKGROUND: Newborn screening for maple syrup urine disease (MSUD) relies on finding increased concentrations of the branched-chain amino acids (BCAAs…

  Authors: Devin Oglesbee, Karen A Sanders, Jean M Lacey, Mark J Magera, Bruno Casetta, Kevin A Strauss, Silvia Tortorelli, Piero Rinaldo, Dietrich Matern

  Source: Clinical chemistry. 2008 Mar

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

  BACKGROUND: Tyrosinemia type I (TYR 1) is a disorder causing early death if left untreated. Newborn screening (NBS) for this condition is problematic …

  Authors: Coleman Turgeon, Mark J Magera, Pierre Allard, Silvia Tortorelli, Dimitar Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Dietrich Matern

  Source: Clinical chemistry. 2008 Apr

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

  The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of pe…

  Authors: Piero Rinaldo, Saba Zafari, Silvia Tortorelli, Dietrich Matern

  Source: Mental retardation and developmental disabilities research reviews. 2006

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

  Newborn screening for X-linked adrenoleukodystrophy (X-ALD) has until now been limited in implementation because of the lack of an accepted standard m…

  Authors: Walter C Hubbard, Ann B Moser, Anita C Liu, Richard O Jones, Steven J Steinberg, Fred Lorey, Susan R Panny, Robert F Vogt, Daniela Macaya, Coleman T Turgeon,…

  Source: Molecular genetics and metabolism. 2009 Jul

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

  Utilizing combined liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the analytical method, we have demonstrated a ten to sixtyfold excess …

  Authors: Walter C Hubbard, Ann B Moser, Silvia Tortorelli, Anita Liu, David Jones, Hugo Moser

  Source: Molecular genetics and metabolism. 2006 Sep-Oct

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• Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I.

  BACKGROUND: Tyrosinemia type I (TYR 1) is a severe disorder causing early death if left untreated. While tyrosine can be determined in dried blood spo…

  Authors: Mark J Magera, Nishantha D Gunawardena, Si Houn Hahn, Silvia Tortorelli, Grant A Mitchell, Stephen I Goodman, Piero Rinaldo, Dietrich Matern

  Source: Molecular genetics and metabolism. 2006 May

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• Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

  Untreated classic galactosemia (galactose-1-phosphate uridyltransferase [GALT] deficiency) is known as a secondary congenital disorders of glycosylati…

  Authors: Luisa Sturiale, Rita Barone, Agata Fiumara, Marta Perez, Marco Zaffanello, Giovanni Sorge, Lorenzo Pavone, Silvia Tortorelli, John F O'Brien, Jaak Jaeken,…

  Source: Glycobiology. 2005 Dec

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

  PURPOSE OF REVIEW: To summarize recent developments in the field of newborn screening related to the use of tandem mass spectrometry as an analytic pl…

  Authors: Piero Rinaldo, Silvia Tortorelli, Dietrich Matern

  Source: Current opinion in pediatrics. 2004 Aug

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

  Tandem mass spectrometry has been the main driver behind a significant expansion in newborn screening programs. The ability to detect more than 40 con…

  Authors: Piero Rinaldo, James S Lim, Silvia Tortorelli, Dimitar Gavrilov, Dietrich Matern

  Source: Nestlé Nutrition workshop series. Paediatric programme. 2008

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