(Q34457697)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Luis Rello

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Laura Vilarinho

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

author name string

Hugo Rocha

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Daisy Castiñeiras

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Carmen Delgado

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

José Egea

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Yolanda González

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Manuel Conde

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Inmaculada González

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

Inmaculada Rueda

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

José Cocho

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

publication date

11 July 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disorders Reports

9 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

volume

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

page(s)

89-94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.

9 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Fatty acid oxidation disorders: outcome and long-term prognosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Mitochondrial fatty-acid oxidation disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Mitochondrial beta-oxidation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Genetic studies of the Roma (Gypsies): a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Expanded newborn screening in Greece: 30 months of experience.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4221301

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Newborn screening for metabolic disorders: how are we doing, and where are we going?

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2014_324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

PubMed publication ID

25012579

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25012579%20AND%20SRC:MED&resulttype=core&format=json