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 (Q34378278)

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English	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	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

1 August 2017

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 (English)

1 reference

Europe PubMed Central

1 August 2017

author name string

S E Waisbren

1

1 reference

Europe PubMed Central

1 August 2017

H L Levy

2

1 reference

Europe PubMed Central

1 August 2017

M Noble

3

1 reference

Europe PubMed Central

1 August 2017

D Matern

4

1 reference

Europe PubMed Central

1 August 2017

N Gregersen

5

1 reference

Europe PubMed Central

1 August 2017

K Pasley

6

1 reference

Europe PubMed Central

1 August 2017

D Marsden

7

1 reference

Europe PubMed Central

1 August 2017

publication date

3 August 2008

1 reference

Europe PubMed Central

1 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

1 August 2017

95

1 reference

Europe PubMed Central

1 August 2017

39-45

1 reference

Europe PubMed Central

1 August 2017

1-2

1 reference

Europe PubMed Central

1 August 2017

HELLP syndrome - a multisystemic disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Newborn screening for metabolic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Fetal fatty acid oxidation defects and maternal liver disease in pregnancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Structural organization of the human short-chain acyl-CoA dehydrogenase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Urine screening for aminoacidopathies: Is it beneficial?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

The Hartnup phenotype: Mendelian transport disorder, multifactorial disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

6 July 2018

Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

Brain malformation and infantile spasms in a SCAD deficiency patient.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

Newborn Screening for Metabolic Disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C4-acylcarnitine concentration in newborn blood spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4204643

27 October 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Rapid and simplified extraction procedure for gas chromatographic--mass spectrometric profiling of urinary organic acids

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Expanded newborn screening

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Magnitude of maternal morbidity during labor and delivery: United States, 1993-1997

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

Routine newborn screening for histidinemia. Clinical and biochemical results

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.06.002

7 January 2021

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

https://pubmed.ncbi.nlm.nih.gov/18676165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected bny screening one millon babies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18676165

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.YMGME.2008.06.002

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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