(Q51559533)

7 April 2018

title

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. (English)

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7 April 2018

author

Robert D. Steiner

6

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author name string

Ahmad A

1

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Kahler SG

2

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Kishnani PS

3

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Artigas-Lopez M

4

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7 April 2018

Pappu AS

5

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Millington DS

7

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Van Hove JL

8

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publication date

1 December 1999

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7 April 2018

American Journal of Medical Genetics Part A

published in

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volume

87

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issue

4

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7 April 2018

page(s)

331-338

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7 April 2018

The Clinical and Biochemical Implications of Pyruvate Carboxylase Deficiency

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991203%2987%3A4%3C331%3A%3AAID-AJMG10%3E3.0.CO%3B2-K

Lactic acidosis due to pyruvate carboxylase deficiency.

21 January 2018

1 reference

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

21 January 2018

1 reference

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Congenital lactic acidosis associated with pyruvate carboxylase deficiency. Repository identification No. GM6056.

21 January 2018

1 reference

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Neonatal pyruvate carboxylase deficiency with renal tubular acidosis and cystinuria

21 January 2018

1 reference

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Brain amino acid abnormalities in pyruvate carboxylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991203%2987%3A4%3C331%3A%3AAID-AJMG10%3E3.0.CO%3B2-K

Pyruvate carboxylase deficiency: acute exacerbation after ACTH treatment of infantile spasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819991203%2987%3A4%3C331%3A%3AAID-AJMG10%3E3.0.CO%3B2-K

Primary amino acid sequence and structure of human pyruvate carboxylase

21 January 2018

1 reference

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Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19991203)87:4<331::AID-AJMG10>3.0.CO;2-K

21 January 2018

Identifiers

DOI

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7 April 2018

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7 April 2018