(Q44528675)

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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

scientific article published on 21 June 2012

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7 February 2020

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening (English)

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Brage Storstein Andresen

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Kristin Skogstrand

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David Michael Hougaard

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Henrik Simonsen

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Mette Christensen

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Morten Dunø

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Ulrich Glümer Jensen

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Arieh Cohen

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Nanna Larsen

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Peter Saugmann-Jensen

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Niels Gregersen

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7 February 2020

Niels Jacob Brandt

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Ernst Christensen

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7 February 2020

Flemming Skovby

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7 February 2020

Bent Nørgaard-Pedersen

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21 June 2012

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Molecular Genetics and Metabolism

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7 February 2020

107

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7 February 2020

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281-293

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7 February 2020

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California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry

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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

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

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Newborn screening for hepatorenal tyrosinemia by tandem mass spectrometry: analysis of succinylacetone extracted from dried blood spots

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Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

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Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.

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Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

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10.1016/J.YMGME.2012.06.006

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7 February 2020

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Europe PubMed Central

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