Publications by authors named "Silvia Tortorelli"

49Publications

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

Mol Genet Metab 2020 Nov 3;131(3):316-324. Epub 2020 Oct 3.

Clinic for Special Children, Strasburg, PA, USA; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA; Departments of Pediatrics and Molecular, Cell & Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA, USA.

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November 2020

The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.

Int J Neonatal Screen 2020 Sep 5;6(3):62. Epub 2020 Aug 5.

Genetic Disease Screening Program, California Department of Public Health, Richmond, CA 94804, USA; (J.M.); (S.S.).

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September 2020

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism.

Int J Neonatal Screen 2020 Jun 10;6(2):33. Epub 2020 Apr 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (A.L.P.); (G.P.); (C.T.); (D.M.); (D.O.); (K.R.); (S.T.); (P.R.).

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June 2020

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Int J Neonatal Screen 2020 Mar 7;6(1):10. Epub 2020 Feb 7.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; (J.M.L.); (A.L.W.); (G.P.); (A.L.S.); (D.G.); (D.O.); (K.R.); (D.M.); (P.R.).

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March 2020

Laboratory monitoring of patients with hereditary tyrosinemia type I.

Mol Genet Metab 2020 08 6;130(4):247-254. Epub 2020 Jun 6.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA. Electronic address:

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August 2020

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Mol Genet Metab 2018 04 27;123(4):428-432. Epub 2018 Feb 27.

Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States; Department of Pediatrics, School of Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, United States.

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April 2018

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.

Genet Med 2018 08 2;20(8):840-846. Epub 2017 Nov 2.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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August 2018

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening.

J Mol Diagn 2017 09;19(5):755-765

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, Minnesota. Electronic address:

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September 2017

Newborn Screening for X-Linked Adrenoleukodystrophy.

Int J Neonatal Screen 2016 Dec 6;2(4). Epub 2016 Dec 6.

Department of Neurology, University of Minnesota Medical Center, Minneapolis, MN 55455, USA.

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December 2016

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

Clin Chem 2016 09 20;62(9):1248-54. Epub 2016 Jul 20.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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September 2016