Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage.
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SUBMITTER: Rossi-Espagnet MC
PROVIDER: S-EPMC7959436 | biostudies-literature | 2021 Mar
REPOSITORIES: biostudies-literature
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Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage.
Rossi-Espagnet M C MC Sudhakar S S Fontana E E Longo D D Davison J J Petengill A L AL Bevivino E E Pacheco F T FT da Rocha A J AJ Hanagandi P P Soldatelli M M Mankad K K do Amaral L L F LLF
AJNR. American journal of neuroradiology 20210121 3
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, requiring prompt diagnosis and treatment, to more insidious clinical scenarios as observed in the subacute and chronic presentations. The current literature predominantly focuses on the long-standing sequelae of this disease. The purpose of this multicenter ...[more]
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