(Q42112182)

English

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening

scientific article published on 14 October 2004

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scholarly article

1 reference

Europe PubMed Central

16 October 2017

0 references

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening (English)

1 reference

Europe PubMed Central

16 October 2017

isovaleric acidemia

1 reference

based on heuristic

inferred from title

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based on heuristic

inferred from title

8

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Europe PubMed Central

16 October 2017

object named as

Jerry Vockley

2

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author name string

Regina Ensenauer

1

1 reference

Europe PubMed Central

16 October 2017

Jan-Marie Willard

3

1 reference

Europe PubMed Central

16 October 2017

Joseph C Huey

4

1 reference

Europe PubMed Central

16 October 2017

Jörn Oliver Sass

5

1 reference

Europe PubMed Central

16 October 2017

Steven D Edland

6

1 reference

Europe PubMed Central

16 October 2017

Barbara K Burton

7

1 reference

Europe PubMed Central

16 October 2017

René Santer

9

1 reference

Europe PubMed Central

16 October 2017

Sarah Grünert

10

1 reference

Europe PubMed Central

16 October 2017

Hans-Georg Koch

11

1 reference

Europe PubMed Central

16 October 2017

Iris Marquardt

12

1 reference

Europe PubMed Central

16 October 2017

Piero Rinaldo

13

1 reference

Europe PubMed Central

16 October 2017

Sihoun Hahn

14

1 reference

Europe PubMed Central

16 October 2017

Dietrich Matern

15

1 reference

Europe PubMed Central

16 October 2017

language of work or name

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publication date

14 October 2004

1 reference

Europe PubMed Central

16 October 2017

American Journal of Human Genetics

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Europe PubMed Central

16 October 2017

75

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Europe PubMed Central

16 October 2017

1136-1142

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Europe PubMed Central

16 October 2017

6

1 reference

Europe PubMed Central

16 October 2017

Thermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and [...]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Recent developments in the investigation of inherited metabolic disorders using cultured human cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 2018

Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

29 May 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=1182150

17 August 2018

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency 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=1182150

17 August 2018

Structural organization of the human isovaleryl-CoA dehydrogenase gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182150

17 August 2018

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/15486829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/15486829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15486829

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

16 October 2017

1 reference

Europe PubMed Central

16 October 2017

1 reference

Europe PubMed Central

16 October 2017

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0 references

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