(Q82035881)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22000754%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme (English)

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14 January 2020

1

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14 January 2020

Cristóbal Colón

7

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José Ramón Alonso-Fernández

14 January 2020

8

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14 January 2020

José M Fraga

9

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14 January 2020

author name string

Daisy E Castiñeiras

2

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14 January 2020

Ma Dolores Bóveda

3

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14 January 2020

Ana Baña

4

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14 January 2020

José A Cocho

5

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14 January 2020

Agustín J Iglesias

6

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14 January 2020

publication date

22 September 2011

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Molecular Genetics and Metabolism

14 January 2020

published in

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14 January 2020

volume

104

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14 January 2020

issue

4

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14 January 2020

page(s)

470-475

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Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

14 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Glutaric aciduria type I: outcome following detection by newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Projected costs, risks, and benefits of expanded newborn screening for MCADD.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Four years of expanded newborn screening in Portugal with tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Continuous thin-layer chromatography of sugars of clinical interest in samples of urine impregnated on paper

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: diagnosis in an expanded neonatal screening programme.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Newborn screening: toward a uniform screening panel and system--executive summary

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume for separating sugars of clinical relevance in paper-borne urine and blood samples in newborn screening.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Worldwide survey of neonatal screening for biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Expanded newborn screening in Europe 2007

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Inborn errors of metabolism in a neonatology unit: impact and long-term results

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Arguments for early screening: a clinician's perspective

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.021

10.1016/J.YMGME.2011.09.021

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22000754%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

1 reference