Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria (Q43866350)

27 November 2017

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria (English)

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27 November 2017

2

Robert K Naviaux

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27 November 2017

Khue Vu Nguyen

1

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27 November 2017

Satyajit Patra

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3

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27 November 2017

Bruce A Barshop

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4

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27 November 2017

William L Nyhan

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5

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27 November 2017

language of work or name

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20 October 2010

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Molecular Genetics and Metabolism

27 November 2017

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27 November 2017

102

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27 November 2017

2

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27 November 2017

218-221

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Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression

27 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.10.008

10.1016/J.YMGME.2010.10.008

7 January 2021

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DOI

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27 November 2017

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