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PMON193 Reactive oxygen species in the development of gonadal failure in late-onset transaldolase deficiency

BACKGROUND: Deficiency in Transaldolase, an essential enzyme in regulating NADPH and ribose 5-phosphate production, has been reported in only 39 patients to date. Most patients present already prenatally/neonatally with intra uterine growth retardation, hepato(spleno)megaly and consequent liver fail...

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Detalles Bibliográficos
Autores principales:	Zangen, David, Florsheim, Natan, Lavi, Eran, Kerem, Liya, Renbaum, Paul, Cahan, Ranit, Libdeh, Abdulsalam Abu, Levi-Lahad, Efrat, Mendelsohn, Espen Eliyahu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625756/ http://dx.doi.org/10.1210/jendso/bvac150.1289

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