Molecular characterization of novel and rare DNA variants in patients with galactosemia

Molecular characterization of novel and rare DNA variants in patients with galactosemia

Introduction: Galactosemia is an inherited disorder caused by mutations in the three genes that encode enzymes implicated in galactose catabolism. Currently, the only available treatment for galactosemia is life-long dietary restriction of galactose/lactose, and despite treatment, it might result in...

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Bibliographic Details
Main Authors:	Vasileios Maroulis, Andreas Agathangelidis, Anastasia Skouma, Triantafyllia Sdogou, Manoussos N. Papadakis, Evangelos Papakonstantinou, Panagiotis Girginoudis, Constantinos E. Vorgias, Vassiliki Aleporou, Panagoula Kollia
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-11-01
Series:	Frontiers in Genetics
Subjects:	galactosemia newborn screening next-generation sequencing genetics molecular analysis mutation
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1266353/full

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