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Authors whose works are in public domain in at least one jurisdiction

List of works by Christian Staufner

1-5 of 5 results

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DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

scientific article
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

scientific article published on 13 July 2016
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

scientific article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

scientific article published on 5 November 2015
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

scientific article published on 23 July 2020

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