Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
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DOI: 10.3174/ajnr.a7016
Abstract: SUMMARY: Galactosemia is a rare genetic condition caused by mutation of enzymes involved in galactose and glucose metabolism. The varying clinical spectrum reflects the genetic complexity of this entity manifesting as acute neonatal toxicity syndrome,… read more here.
Keywords: neuroradiologic phenotyping; neonatal form; phenotyping galactosemia; form chronic ... See more keywords