(Q35434260)

8 August 2017

title

Mutation analysis in glutaric aciduria type I. (English)

1 reference

8 August 2017

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Zschocke J

1

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8 August 2017

Quak E

series ordinal

2

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8 August 2017

Guldberg P

series ordinal

3

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8 August 2017

Hoffmann GF

series ordinal

4

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8 August 2017

language of work or name

English

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publication date

1 March 2000

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Journal of Medical Genetics

8 August 2017

published in

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8 August 2017

volume

37

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8 August 2017

issue

3

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8 August 2017

page(s)

177-181

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Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

'Broad-range' DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

CpG-rich islands and the function of DNA methylation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

Application of natural and amplification created restriction sites for the diagnosis of PKU mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

Diagnosis and management of glutaric aciduria type I.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734541

Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency

26 September 2018

1 reference

12 December 2020

Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis

1 reference

12 December 2020

Biochemistry of glutaric aciduria type I: activities of in vitro expressed wild-type and mutant cDNA encoding human glutaryl-CoA dehydrogenase

1 reference

12 December 2020

Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.3.177

1 reference

8 August 2017

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8 August 2017

1 reference