(Q34065034)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

0 references

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

Susan E Waisbren

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Yuval Landau

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

Jenna Wilson

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

1 January 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

Developmental Disabilities Research Reviews

3 March 2020

published in

1 reference

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3 March 2020

volume

17

1 reference

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3 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

260-268

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

The adult galactosemic phenotype

3 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=4137760

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Newborn screening for metabolic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Screening for speech and language delay in preschool children: systematic evidence review for the US Preventive Services Task Force

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Disorders of mitochondrial long-chain fatty acid oxidation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4137760

Timing is everything: executive functions in children exposed to elevated levels of phenylalanine

5 July 2018

1 reference

Delayed language development due to infantile thiamine deficiency

21 January 2018

1 reference

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

21 January 2018

1 reference

Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening

21 January 2018

1 reference

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

21 January 2018

1 reference

Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome.

21 January 2018

1 reference

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

21 January 2018

1 reference

Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy.

21 January 2018

1 reference

Neonatal screening for defects of the mitochondrial trifunctional protein

21 January 2018

1 reference

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

21 January 2018

1 reference

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots

21 January 2018

1 reference

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

21 January 2018

1 reference

Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic

21 January 2018

1 reference

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

21 January 2018

1 reference

Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

21 January 2018

1 reference

Long chain fatty acid oxidation defects in children: importance of detection and treatment options

21 January 2018

1 reference

12 December 2020

Expanded newborn screening: reducing harm, assessing benefit

1 reference

12 December 2020

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1002/DDRR.1119

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23798014%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

PubMed publication ID

23798014

1 reference