A review of newborn screening in the era of tandem mass spectrometry: what's new for the pediatric neurologist?

Seminars in Pediatric Neurology
Sara Copeland

Abstract

Newborn screening has evolved from a single test for a single metabolite to a test that detects more than 90 metabolites on a single blood spot. In the past decade, the panel of newborn-screening disorders has rapidly expanded and will continue to grow as more is discovered about the human genome. It continues to be a very sensitive population screening tool that is susceptible to the status of the infant and the timing of the specimen collection. This review discusses the disorders that should be detected on neonatal bloodspot screening and what pediatric neurologists may see in those that were detected on newborn screening and treated and those that have been untreated.

References

May 1, 1989·Neurology·J H FriedmanR M Boustany
Apr 25, 2000·European Journal of Haematology·M QatananiL Zahed
Oct 4, 2002·Hearing Research·Malgorzata WasniewskaTeresa Arrigo
Mar 13, 2003·Computerized Medical Imaging and Graphics : the Official Journal of the Computerized Medical Imaging Society·R N Sener
Jan 20, 2004·European Journal of Biochemistry·Kim Bartlett, Simon Eaton
Jan 24, 2006·Neuropediatrics·D LongoF Deodato
Apr 8, 2006·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Fernando Scaglia, Brendan Lee
Oct 3, 2006·American Journal of Ophthalmology·Ali TaherPatrick Baz
Jun 26, 2007·Brain & Development·Yoshiaki SaitoKousaku Ohno
Sep 6, 2007·Indian Journal of Pediatrics·D ShaligramS K Chaturvedi
Nov 30, 2007·Magnetic Resonance in Medicine : Official Journal of the Society of Magnetic Resonance in Medicine·Peter VermathenRoland Kreis
Jan 2, 2008·Pediatrics·UNKNOWN American Academy of Pediatrics Newborn Screening Authoring Committee
Jan 18, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Diane B Paul
Jan 24, 2008·Nature Clinical Practice. Endocrinology & Metabolism·Dawn SmileyGuillermo Umpierrez
Mar 13, 2010·Molecular Genetics and Metabolism·Philippe M CampeauBrendan H Lee

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Citations

Jan 1, 2010·Expert Opinion on Medical Diagnostics·Joanna M Hunter, Eustache Paramithiotis
Dec 10, 2015·Journal of the International Neuropsychological Society : JINS·Ida Sue BaronRajiv Baveja
Nov 1, 2018·Reviews in the Neurosciences·Yan ZengDezhi Mu
Apr 19, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Nan YangYuan-Yuan Kong
May 29, 2020·Archives of Biochemistry and Biophysics·Inês M S GuerraAna S P Moreira

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