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Christian Staufner

Showing results (31-40 of 55) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Molecular Genetics and Metabolism|February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGBianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Molecular Genetics and Metabolism|July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiencySarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.
Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.
Human Mutation|December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsAyman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In VivoTian Sun, Nicole Hammann, Lina Leghlam, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Molecular Genetics and Metabolism|February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGBianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Molecular Genetics and Metabolism|July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiencySarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.
Molecular Genetics and Metabolism|June 7, 2017
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patientsSarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, et al.
Human Mutation|December 29, 2017
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspectsAyman W El-Hattab, Julia Wang, Hongzheng Dai, et al.
American Journal of Human Genetics|July 19, 2016
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile HepatopathyRobert Kopajtich, Kei Murayama, Andreas R Janecke, et al.
Journal of Inherited Metabolic Disease|June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disordersCorinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|June 26, 2026
Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In VivoTian Sun, Nicole Hammann, Lina Leghlam, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Pageof 6