(Q50306833)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22658692%20AND%20SRC:MED&resulttype=core&format=json

3 February 2020

title

Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening (English)

1 reference

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3 February 2020

5

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3 February 2020

Annet Bosch

7

1 reference

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3 February 2020

author name string

Georgianne L Arnold

1

1 reference

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3 February 2020

Denise Salazar

2

1 reference

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3 February 2020

Julie A Neidich

3

1 reference

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3 February 2020

Pim Suwannarat

4

1 reference

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3 February 2020

Uta Lichter-Konecki

6

1 reference

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3 February 2020

Kristina Cusmano-Ozog

8

1 reference

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3 February 2020

Greg Enns

9

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3 February 2020

Erica L Wright

10

1 reference

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3 February 2020

Brendan C Lanpher

11

1 reference

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3 February 2020

Natalie N Owen

12

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3 February 2020

Mark H Lipson

13

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3 February 2020

Roberto Cerone

14

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3 February 2020

Paul Levy

15

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3 February 2020

Lee-Jun C Wong

16

1 reference

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3 February 2020

Antal Dezsofi

17

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3 February 2020

publication date

20 April 2012

1 reference

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Molecular Genetics and Metabolism

3 February 2020

published in

1 reference

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3 February 2020

volume

106

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3 February 2020

issue

4

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3 February 2020

page(s)

439-441

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.

3 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

Benign clinical presentation of 3-methylcrotonylglycinuria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

Glycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

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.2012.04.006

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.006