(Q48054437)

8 February 2018

title

Lack of mutations in the biotin-binding region of the pyruvate carboxylase (PC) gene in a family with partial PC deficiency (English)

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8 February 2018

author name string

Higgins JJ

1

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8 February 2018

Ide SE

2

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8 February 2018

Oghalai JS

3

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8 February 2018

Polymeropoulos MH

4

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8 February 2018

publication date

1 February 1997

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8 February 2018

published in

Clinical Biochemistry

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8 February 2018

volume

30

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8 February 2018

issue

1

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8 February 2018

page(s)

79-81

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8 February 2018

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

Prolonged survival in pyruvate carboxylase deficiency: lack of correlation with enzyme activity in cultured fibroblasts.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

The structure and the mechanism of action of pyruvate carboxylase

7 January 2021

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https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

Use of indirect calorimetry in clinical nutrition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

Systemic deficiency of the first component of the pyruvate dehydrogenase complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

Prenatal diagnosis of pyruvate carboxylase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

Pyruvate Carboxylase and Phosphoenolpyruvate Carboxykinase Activity in Leukocytes and Fibroblasts from a Patient with Pyruvate Carboxylase Deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

Primary amino acid sequence and structure of human pyruvate carboxylase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2896%2900125-7

10.1016/S0009-9120(96)00125-7

7 January 2021

Identifiers

DOI

1 reference

8 February 2018

1 reference

8 February 2018