(Q53466033)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25689098%20AND%20SRC:MED&resulttype=core&format=json

1 March 2020

title

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism (English)

1 reference

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1 March 2020

0 references

0 references

1 reference

15

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Guglielmo Rosario Domenico Villani

1 March 2020

28

1 reference

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1 March 2020

Francesco Salvatore

30

1 reference

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1 March 2020

Giulia Frisso

31

1 reference

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1 March 2020

author name string

Emanuela Scolamiero

1

1 reference

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1 March 2020

Carla Cozzolino

2

1 reference

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1 March 2020

Lucia Albano

3

1 reference

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1 March 2020

Antonella Ansalone

4

1 reference

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1 March 2020

Marianna Caterino

5

1 reference

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1 March 2020

Graziella Corbo

6

1 reference

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1 March 2020

Maria Grazia di Girolamo

7

1 reference

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1 March 2020

Cristina Di Stefano

8

1 reference

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1 March 2020

Adriano Durante

9

1 reference

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1 March 2020

Giovanni Franzese

10

1 reference

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1 March 2020

Ignazio Franzese

11

1 reference

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1 March 2020

Giovanna Gallo

12

1 reference

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1 March 2020

Paolo Giliberti

13

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1 March 2020

Laura Ingenito

14

1 reference

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1 March 2020

Basilio Malamisura

16

1 reference

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1 March 2020

Pietro Mazzeo

17

1 reference

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1 March 2020

Antonella Norma

18

1 reference

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1 March 2020

Daniela Ombrone

19

1 reference

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1 March 2020

Giancarlo Parenti

20

1 reference

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1 March 2020

Silvana Pellecchia

21

1 reference

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1 March 2020

Rita Pecce

22

1 reference

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1 March 2020

Ippolito Pierucci

23

1 reference

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1 March 2020

Roberta Romanelli

24

1 reference

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1 March 2020

Anna Rossi

25

1 reference

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1 March 2020

Massimo Siano

26

1 reference

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1 March 2020

Teodoro Stoduto

27

1 reference

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1 March 2020

Generoso Andria

29

1 reference

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1 March 2020

Margherita Ruoppolo

32

1 reference

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1 March 2020

publication date

1 June 2015

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1 March 2020

1 reference

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1 March 2020

volume

11

1 reference

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1 March 2020

issue

6

1 reference

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1 March 2020

page(s)

1525-1535

1 reference

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Mass spectrometry in clinical chemistry: the case of newborn screening.

1 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1039%2FC4MB00729H

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

21 January 2018

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Population screening in the age of genomic medicine

21 January 2018

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

21 January 2018

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Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

21 January 2018

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Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

21 January 2018

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Molecular and functional characterisation of mild MCAD deficiency

21 January 2018

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Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

21 January 2018

1 reference

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Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

21 January 2018

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Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene

21 January 2018

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Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

21 January 2018

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The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

21 January 2018

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2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

21 January 2018

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Falsely elevated C4-carnitine as expression of glutamate formiminotransferase deficiency in tandem mass spectrometry newborn screening

21 January 2018

1 reference

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The molecular basis of glutamate formiminotransferase deficiency

21 January 2018

1 reference

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Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

21 January 2018

1 reference

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Maternal vitamin B12 deficiency detected in expanded newborn screening

21 January 2018

1 reference

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Maternal and neonatal vitamin B12 deficiency detected through expanded newborn screening--United States, 2003-2007.

21 January 2018

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Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

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