(Q57577790)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150417%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150417%20AND%20SRC:MED&resulttype=core&format=json

3-methylcrotonyl-CoA carboxylase deficiency

18 January 2020

main subject

0 references

author

Chang-Seok Ki

4

1 reference

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18 January 2020

Eun-Wha Choi

11

1 reference

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18 January 2020

author name string

H-D Park

2

1 reference

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18 January 2020

Y-W Lee

3

1 reference

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18 January 2020

S-Y Lee

5

1 reference

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18 January 2020

S Ji

9

1 reference

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18 January 2020

A-r Ko

13

1 reference

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18 January 2020

K-H Paik

14

1 reference

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18 January 2020

D-K Jin

16

1 reference

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18 January 2020

S Y Cho

1

1 reference

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18 January 2020

Y B Sohn

6

1 reference

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18 January 2020

S W Park

7

1 reference

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18 January 2020

S H Kim

8

1 reference

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18 January 2020

S J Kim

10

1 reference

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18 January 2020

C H Kim

12

1 reference

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18 January 2020

D H Lee

15

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18 January 2020

publication date

1 January 2012

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18 January 2020

1 reference

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18 January 2020

volume

81

1 reference

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18 January 2020

issue

1

1 reference

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18 January 2020

page(s)

96-98

1 reference

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

18 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01704.X

Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01704.X

3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01704.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01704.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01704.X

Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01704.X

10.1111/J.1399-0004.2011.01704.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22150417%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference