Literature DB >> 24115426

Medicine. Newborn screening: gaps in the evidence.

Bridget Wilcken1.   

Abstract

Mesh：

Year:  2013        PMID： 24115426     DOI： 10.1126/science.1243944

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  14 in total

1.  The Impact of the Affordable Care Act on Funding for Newborn Screening Services.

Authors:  Julia F Costich; Andrea L Durst
Journal:  Public Health Rep       Date:  2016 Jan-Feb       Impact factor: 2.792

2.  The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening.

Authors:  Callum Wilson; Detlef Knoll; Mark de Hora; Campbell Kyle; Emma Glamuzina; Dianne Webster
Journal:  JIMD Rep       Date:  2016-12-08

3.  Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.

Authors:  Brook M Pyhtila; Kelly A Shaw; Samantha E Neumann; Judith L Fridovich-Keil
Journal:  JIMD Rep       Date:  2014-04-10

4.  Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

Authors:  Olivia M D'Annibale; Erik A Koppes; Ahmad N Alodaib; Catherine Kochersperger; Anuradha Karunanidhi; Al-Walid Mohsen; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2021-08-30       Impact factor: 4.204

5.  Characterization of exonic variants of uncertain significance in very long-chain acyl-CoA dehydrogenase identified through newborn screening.

Authors:  Olivia M D'Annibale; Erik A Koppes; Meena Sethuraman; Kaitlyn Bloom; Al-Walid Mohsen; Jerry Vockley
Journal:  J Inherit Metab Dis       Date:  2022-03-11       Impact factor: 4.750

6.  Whole Genome Sequencing and Newborn Screening.

Authors:  Jeffrey R Botkin; Erin Rothwell
Journal:  Curr Genet Med Rep       Date:  2016-02-01

Review 7.  The evolution of blood-spot newborn screening.

Authors:  Kaustuv Bhattacharya; Tiffany Wotton; Veronica Wiley
Journal:  Transl Pediatr       Date:  2014-04

8.  Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Authors:  Eugene F Diekman; Sacha Ferdinandusse; Ludo van der Pol; Hans R Waterham; Jos P N Ruiter; Lodewijk Ijlst; Ronald J Wanders; Sander M Houten; Frits A Wijburg; A Christiaan Blank; Folkert W Asselbergs; Riekelt H Houtkooper; Gepke Visser
Journal:  Genet Med       Date:  2015-04-02       Impact factor: 8.822

9.  Newborn screening: the genomic challenge.

Authors:  Harvey L Levy
Journal:  Mol Genet Genomic Med       Date:  2014-03       Impact factor: 2.183

10.  The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase.

Authors:  Johanna M Jank; Esther M Maier; Dunja D Reiβ; Martin Haslbeck; Kristina F Kemter; Marietta S Truger; Christian P Sommerhoff; Sacha Ferdinandusse; Ronald J Wanders; Søren W Gersting; Ania C Muntau
Journal:  PLoS One       Date:  2014-04-09       Impact factor: 3.240
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