A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Ane...
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
About this item
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Author / Creator
Mamoune, Asmaa , Bahuau, Michel , Hamel, Yamina , Serre, Valérie , Pelosi, Michele , Habarou, Florence , Nguyen Morel, Marie-Ange , Boisson, Bertrand , Vergnaud, Sabrina , Viou, Mai Thao , Nonnenmacher, Luc , Piraud, Monique , Nusbaum, Patrick , Vamecq, Joseph , Romero, Norma , Ottolenghi, Chris , Casanova, Jean-Laurent and de Lonlay, Pascale
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publication information
Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Aldolase A deficiency has been reported as a rare cause of hemolytic anemia occasionally associated with myopathy. We identified a deleterious homozygous mutation in the ALDOA gene in 3 siblings with episodic rhabdomyolysis without hemolytic anemia. Myoglobinuria was always triggered by febrile illnesses. We show that the underlying mechanism invol...
Alternative Titles
Full title
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
Authors, Artists and Contributors
Author / Creator
Bahuau, Michel
Hamel, Yamina
Serre, Valérie
Pelosi, Michele
Habarou, Florence
Nguyen Morel, Marie-Ange
Boisson, Bertrand
Vergnaud, Sabrina
Viou, Mai Thao
Nonnenmacher, Luc
Piraud, Monique
Nusbaum, Patrick
Vamecq, Joseph
Romero, Norma
Ottolenghi, Chris
Casanova, Jean-Laurent
de Lonlay, Pascale
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1685133223
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1685133223
Other Identifiers
ISSN
1553-7404,1553-7390
E-ISSN
1553-7404
DOI
10.1371/journal.pgen.1004711
