(Q43970662)

English

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

scientific article published on 9 February 2012

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 November 2017

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

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Europe PubMed Central

PubMed publication ID

28 November 2017

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Natalie M Gallant

1

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28 November 2017

Karen Leydiker

2

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28 November 2017

Hao Tang

3

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28 November 2017

Lisa Feuchtbaum

4

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28 November 2017

Fred Lorey

5

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28 November 2017

Rebecca Puckett

6

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28 November 2017

Joshua L Deignan

7

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28 November 2017

Julie Neidich

8

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28 November 2017

Naghmeh Dorrani

9

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28 November 2017

Erica Chang

10

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Bruce A Barshop

11

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Stephen D Cederbaum

12

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Jose E Abdenur

13

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28 November 2017

Raymond Y Wang

14

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publication date

9 February 2012

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Molecular Genetics and Metabolism

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28 November 2017

106

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1

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55-61

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28 November 2017

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

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.007

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Short-chain acyl-coenzyme A dehydrogenase deficiency

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7 January 2021

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

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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

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

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7 January 2021

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

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7 January 2021

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

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7 January 2021

Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

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7 January 2021

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

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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

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Human non-synonymous SNPs: server and survey

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A method and server for predicting damaging missense mutations

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7 January 2021

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

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7 January 2021

SIFT: Predicting amino acid changes that affect protein function

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7 January 2021

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

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Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

1 reference

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7 January 2021

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

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7 January 2021

Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis

1 reference

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7 January 2021

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.02.007

7 January 2021

Ethylmalonic encephalopathy: clinical and biochemical observations

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7 January 2021

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

A longitudinal study of children with developmental language delay at age three: later intelligence, reading and behaviour problems.

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The prevalence of language delay in a population of three-year-old children and its association with general retardation

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10.1016/J.YMGME.2012.02.007

1 reference

Europe PubMed Central

PubMed publication ID

28 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 November 2017

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