(Q41739968)

8 October 2017

1 reference

title

Maple syrup urine disease: it has come a long way. (English)

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maple syrup urine disease

8 October 2017

main subject

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Chuang DT

1

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8 October 2017

language of work or name

English

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publication date

1 March 1998

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The Journal of Pediatrics

8 October 2017

published in

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8 October 2017

volume

132

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8 October 2017

issue

3 Pt 2

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8 October 2017

page(s)

S17-23

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Metabolism of the white blood cells in maple-syrup-urine disease

8 October 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

The 2-oxo acid dehydrogenase complexes: recent advances

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Purification and characterization of branched chain alpha-keto acid dehydrogenase complex of bovine kidney

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Complementation Analysis of Maple Syrup Urine Disease in Heterokaryons derived from Cultured Human Fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Atomic structure of the cubic core of the pyruvate dehydrogenase multienzyme complex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Enzyme activity in classical and variant forms of maple syrup urine disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Thiamine-responsive maple-syrup-urine disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients

7 January 2021

2 references

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

7 January 2021

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

inferred from DOI database lookup

7 January 2021

based on heuristic

Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Molecular and biochemical basis of intermediate maple syrup urine disease. Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

Maple syrup urine disease as a cause of spongiform encephalopathy in calves

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970523-2

10.1016/S0022-3476(98)70523-2

7 January 2021

Identifiers

DOI

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8 October 2017

1 reference