(Q24299725)

English

Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr)

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Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr) (English)

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Aldolase, fructose-bisphosphate A

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GOA release 2020-03-11

muscle cell cellular homeostasis

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GOA release 2020-03-11

hemolytic anemia

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inferred from title

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based on heuristic

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Ellis J Neufeld

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object named as

Ellis J Neufeld

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6

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Alon Geva

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author name string

David C Yao

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Dean R Tolan

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Michael F Murray

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David J Harris

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Basil T Darras

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language of work or name

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publication date

15 March 2004

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103

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6

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2401-3

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Two cases of red cell aldolase deficiency associated with hereditary hemolytic anemia in a japanese family

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https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

Snapshots of catalysis: the structure of fructose-1,6-(bis)phosphate aldolase covalently bound to the substrate dihydroxyacetone phosphate

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https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

Structure of a fructose-1,6-bis(phosphate) aldolase liganded to its natural substrate in a cleavage-defective mutant at 2.3 A(,)

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

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Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A

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https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation

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https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

Regulation of the multiple promoters of the human aldolase A gene: response of its two ubiquitous promoters to agents promoting cell proliferation

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https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

Site-directed mutagenesis of human aldolase isozymes: the role of Cys-72 and Cys-338 residues of aldolase A and of the carboxy-terminal Tyr residues of aldolases A and B.

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of human muscle aldolase complexed with fructose 1,6-bisphosphate: mechanistic implications

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

inferred from DOI database lookup

International Committee for Standardization in Haematology: recommended methods for red-cell enzyme analysis.

1 reference

https://api.crossref.org/works/10.1182%2FBLOOD-2003-09-3160

7 January 2021

based on heuristic

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10.1182/BLOOD-2003-09-3160

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