Pathophysiology of long-term complications in classic galactosemia: What we do and do not know

Despite many decades of research involving both human subjects and model systems, the underlying pathophysiology of long-term complications in classic galactosemia (CG) remains poorly understood. In this review, intended for those already familiar with galactosemia, we focus on the big questions rel...

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Bibliographic Details
Published inMolecular genetics and metabolism Vol. 137; no. 1-2; pp. 33 - 39
Main Authors Fridovich-Keil, Judith L., Berry, Gerard T.
Format Journal Article
LanguageEnglish
Published Elsevier Inc 01.09.2022
Subjects
Complications
Galactosemia
GALT
Markers
Mechanism
Pathophysiology
gal-1P
RBC
GALT
Pathophysiology
CG
Complications
Markers
IQ
GALK
DQ
Mechanism
Galactosemia
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Summary:Despite many decades of research involving both human subjects and model systems, the underlying pathophysiology of long-term complications in classic galactosemia (CG) remains poorly understood. In this review, intended for those already familiar with galactosemia, we focus on the big questions relating to outcomes, mechanism, and markers, drawing on relevant literature where available, attempting to navigate inconsistencies where they appear, and acknowledging gaps in knowledge where they persist.
Bibliography:ObjectType-Article-2
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ObjectType-Review-1
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2022.07.005