Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
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DOI: 10.1093/tropej/fmac098
Abstract: BACKGROUND Classic galactosemia (CG) is a rare hereditary disease that can cause serious morbidity and death if it is not diagnosed and treated in early periods of life. Clinical findings usually occur in the neonatal… read more here.
Keywords: diagnosis; estimated incidence; molecular characteristics; galactosemia ... See more keywords