(Q80647933)

English

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007)

scientific article published on 23 July 2007

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17643193%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007) (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17643193%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

author name string

D Matern

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17643193%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

S Tortorelli

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17643193%20AND%20SRC:MED&resulttype=core&format=json

2 January 2020

D Oglesbee

3

1 reference

Europe PubMed Central

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2 January 2020

D Gavrilov

4

1 reference

Europe PubMed Central

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2 January 2020

P Rinaldo

5

1 reference

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2 January 2020

publication date

23 July 2007

1 reference

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2 January 2020

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

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2 January 2020

30

1 reference

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2 January 2020

4

1 reference

Europe PubMed Central

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2 January 2020

585-592

1 reference

Europe PubMed Central

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2 January 2020

https://scigraph.springernature.com/pub.10.1007/s10545-007-0691-y

0 references

Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening for Duchenne muscular dystrophy: a novel semiquantitative application of the bioluminescence test for creatine kinase in a pilot national program in Cyprus

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-tiered universal newborn screening strategy for severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanded newborn screening for biochemical disorders: the effect of a false-positive result

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tandem mass spectrometric assay of succinylacetone in urine for the diagnosis of hepatorenal tyrosinemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reduction of false negative results in screening of newborns for homocystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of population-based newborn screening for severe combined immunodeficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neonatal screening by DNA microarray: spots and chips

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pilot study for the neonatal screening of fragile X syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn screening for Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/17643193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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