Article
Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening.
Orphanet journal of rare diseases - 26 Feb 2021
Vela-Amieva Marcela, Alcántara-Ortigoza Miguel Angel, González-Del Angel Ariadna, Belmont-Martínez Leticia, López-Candiani Carlos, Ibarra-González Isabel
Abstract excerpt
BACKGROUND: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) newborn screening is still a matter of debate due to its highly heterogeneous birth prevalence and clinical expression, as well as, the lack of enough knowledge on its natural history. Herein, we describe the early natural clinical course and the underlying GDPD genotypes in infants with G6PDd detected by newborn screening and later studied in a...
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