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Published in 2018 at "Annals of Clinical Biochemistry"
DOI: 10.1177/0004563218762957
Abstract: Background Classical galactosaemia (OMIM #230400) is a rare disorder of carbohydrate metabolism caused by deficiency of the galactose-1-phosphate uridyltransferase enzyme. The pathophysiology of the long-term complications, mainly cognitive, neurological and female fertility problems, remains poorly…
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Keywords:
automated ultraperformance;
validation automated;
classical galactosaemia;
method ... See more keywords