(Q44761087)

6 December 2017

title

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

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6 December 2017

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Laura Vilarinho

1

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6 December 2017

Hugo Rocha

2

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6 December 2017

Carmen Sousa

3

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6 December 2017

Ana Marcão

4

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6 December 2017

Helena Fonseca

5

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6 December 2017

Mário Bogas

6

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6 December 2017

Rui Vaz Osório

7

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6 December 2017

publication date

23 February 2010

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Journal of Inherited Metabolic Disease

6 December 2017

published in

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6 December 2017

volume

33 Suppl 3

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6 December 2017

page(s)

S133-8

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https://scigraph.springernature.com/pub.10.1007/s10545-010-9048-z

6 December 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

Outcome of three cases of untreated maternal glutaric aciduria type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

The consequences of extended newborn screening programmes: do we know who needs treatment?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9048-Z

10.1007/S10545-010-9048-Z

21 January 2018

Identifiers

DOI

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6 December 2017

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