Search Results - "Köpke, Marlies G."
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Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Published in American journal of human genetics (02-07-2015)“…Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and…”
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Journal Article -
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Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Published in Journal of inherited metabolic disease (01-01-2016)“…Background Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency and in about 50 % the etiology remains unknown. Recently…”
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Journal Article