Neuroradiologic Phenotyping of Galactosemia: From the Neonatal Form to the Chronic Stage
Sign Up to like & getrecommendations! Published in 2021 at "American Journal of Neuroradiology"
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
Painless form of chronic pancreatitis - multicentre study.
Sign Up to like & getrecommendations! Published in 2023 at "Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia"
DOI: 10.5507/bp.2023.019
Abstract: BACKGROUND The painless form of chronic pancreatitis is one of the rarer forms of the disease. While 80% to 90% of all chronic pancreatitis cases have abdominal pain as their clinical symptom, a smaller proportion… read more here.
Keywords: chronic pancreatitis; form chronic; painless form; pancreatitis ... See more keywords