(Q36776112)

16 August 2017

Maternal glutaric acidemia, type I identified by newborn screening (English)

1 reference

16 August 2017

1 reference

Eric A Crombez

1

1 reference

16 August 2017

Stephen D Cederbaum

2

1 reference

16 August 2017

Elaine Spector

3

1 reference

16 August 2017

Erica Chan

4

1 reference

16 August 2017

Denise Salazar

5

1 reference

16 August 2017

Julie Neidich

6

1 reference

16 August 2017

Stephen Goodman

7

1 reference

16 August 2017

4 March 2008

1 reference

Molecular Genetics and Metabolism

16 August 2017

1 reference

16 August 2017

94

1 reference

16 August 2017

1

1 reference

16 August 2017

132-134

1 reference

Neonatal screening for glutaric aciduria type I: strategies to proceed

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474772

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474772

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474772

Outcome of three cases of untreated maternal glutaric aciduria type I.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474772

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2474772

Glutaric aciduria; A “new” disorder of amino acid metabolism

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.005

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.005

Expanded newborn screening identifies maternal primary carnitine deficiency

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.YMGME.2008.01.005

10.1016/J.YMGME.2008.01.005

7 January 2021

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18304851

1 reference