The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency (Q24290840)

Methylcrotonoyl-CoA carboxylase 1

GOA release 2020-03-11

1 reference

methylcrotonoyl-CoA carboxylase activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

M R Baumgartner

1

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S Almashanu

2

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T Suormala

3

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C Obie

4

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R N Cole

5

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S Packman

6

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E R Baumgartner

7

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D Valle

Journal of Clinical Investigation

8

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language of work or name

English

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publication date

February 2001

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published in

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volume

107

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issue

4

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page(s)

495-504

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Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset

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12 December 2020

Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts

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12 December 2020

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

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12 December 2020

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12 December 2020

Chemical cleavage of proteins

1 reference

12 December 2020

Molecular cloning of the biotinylated subunit of 3-methylcrotonyl-coenzyme A carboxylase of Arabidopsis thaliana

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12 December 2020

Sequence requirements for the biotinylation of carboxyl-terminal fragments of human propionyl-CoA carboxylase alpha subunit expressed in Escherichia coli

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12 December 2020

Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample

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Identifiers

DOI

10.1172/JCI11948

1 reference

release_xetrh5qfsjatlmjfqpbrwqxgbm

3505033

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xetrh5qfsjatlmjfqpbrwqxgbm

24 November 2022

mapped directly with Wikidata item

3505033

1 reference

1 reference

1 reference