(Q82223300)

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15 January 2020

title

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations (English)

1 reference

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15 January 2020

author name string

Chang-Woo Jung

1

1 reference

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15 January 2020

Beom Hee Lee

2

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15 January 2020

Joo Hyun Kim

3

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15 January 2020

Gu-Hwan Kim

4

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15 January 2020

Jin Lee

5

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15 January 2020

Jin-Ho Choi

6

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15 January 2020

Han-Wook Yoo

7

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15 January 2020

publication date

27 October 2011

1 reference

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Journal of Human Genetics

15 January 2020

published in

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15 January 2020

volume

57

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15 January 2020

issue

1

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15 January 2020

page(s)

62-64

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https://scigraph.springernature.com/pub.10.1038/jhg.2011.116

15 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

Expression, purification, characterization of human 3-methylcrotonyl-CoA carboxylase (MCCC)

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

The impact of population heterogeneity on risk estimation in genetic counseling

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

Screening of newborns and high-risk group of children for inborn metabolic disorders using tandem mass spectrometry in South Korea: a three-year report.

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

Isolated biotin‐resistant deficiency of 3‐methylcrotonyl‐CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

3-Hydroxyisovalerylcarnitine in patients with deficiency of 3-methylcrotonyl CoA carboxylase

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2011.116

7 January 2021

Identifiers

DOI

10.1038/JHG.2011.116

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22030835%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference