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Generalised uridine diphosphate galactose-4-epimerase deficiency

The generalised form of epimerase deficiency galactosaemia has been described in only two children from unrelated families. Their progress is reported and three other affected children from these families are described. The initial presentation was similar to classic galactosaemia. Despite treatment...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Walter, J, Roberts, R, Besley, G, Wraith, J, Cleary, M, Holton, J, MacFaul, R
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 1999
Θέματα:
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1717903/
https://ncbi.nlm.nih.gov/pubmed/10086948
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