Christian Staufner

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 62 publications

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: March 17, 2026

SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.

SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.

Journal: Disease models & mechanisms

Published: March 14, 2025

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Journal: Journal of inherited metabolic disease

Published: January 03, 2025

Reply: The race against time in genetic testing for PALF.

Reply: The race against time in genetic testing for PALF.

Journal: Hepatology (Baltimore, Md.)

Published: November 18, 2024

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: October 29, 2024

Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.

Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.

Journal: Journal of pediatric gastroenterology and nutrition

Published: October 21, 2024

An atypical presentation in a child with propionic acidemia? Better think twice!

An atypical presentation in a child with propionic acidemia? Better think twice!

Journal: JIMD reports

Published: July 16, 2024

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.

Journal: Nucleic acids research

Published: June 10, 2024

MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration.

Journal: Journal of inherited metabolic disease

Published: March 28, 2024

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Journal: Brain communications

Published: November 29, 2023

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.

Journal: Journal of inherited metabolic disease

Published: November 15, 2023

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Journal: Molecular genetics and metabolism

Published: July 13, 2023

Showing 1-12 of 62

Last Updated: 09/26/2026