Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study

Glucose-6-phosphate dehydrogenase deficiency is an erythrocyte enzyme disorder caused by mutations in the G6PD gene, which has an X-linked inheritance. Here we analyze the clinical and laboratory characteristics of 24 subjects with G6PD deficiency over 25 years. Their median age at diagnosis was 10....

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Veröffentlicht in:	Archivos argentinos de pediatría 2019-08, Vol.117 (4), p.263-270
Hauptverfasser:	Eandi Eberle, Silvia, Pepe, Carolina, Chaves, Alejandro, Aguirre, Fernando, Milanesio, Berenice, Fernández, Diego, Ávalos Gómez, Vanesa, Sciuccati, Gabriela, Díaz, Lilian A, Candas, Andrea, Cervio, Carolina, Bonduel, Mariana, Feliu Torres, Aurora
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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