Christian Staufner

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 9

Top Venues

Children (Basel, Switzerland)

Journal of inherited metabolic disease

JIMD reports

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Bianca Peters, Tal Dattner, Lea D Schlieben, Tian Sun, Christian Staufner, Dominic Lenz
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency. Journal of inherited metabolic disease (2024)
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A Husain, Eva Forman, Jonathan A Bernstein, Tal Dattner, Marc Engelen, Andrea K Hanson-Kahn, Bertrand Isidor, Urania Kotzaeridou, Anna Tietze, Regina Trollmann, Claudia Weiß, Bruce H R Wolffenbuttel, Stefan Kölker, Georg F Hoffmann, Ellen Crushell, Christian Staufner, Alexander Mohr, Inga Harting
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration. Journal of inherited metabolic disease (2024)
Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F Hoffmann, Siegmund Köhler, Christian Staufner
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS . JIMD reports 64 (3) (2023)
Alexander Kovacevic, Sven F Garbade, Friederike Hörster, Georg F Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study. Children (Basel, Switzerland) 10 (1) (2023)
Bianca Peters, Felix Wiemers, Dominic Lenz, Stefan Kölker, Georg F Hoffmann, Siegmund Köhler, Christian Staufner
Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS . JIMD reports 64 (3) (2023)
Alexander Kovacevic, Sven F Garbade, Friederike Hörster, Georg F Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study. Children (Basel, Switzerland) 10 (1) (2023)
Alexander Kovacevic, Sven F Garbade, Friederike Hörster, Georg F Hoffmann, Matthias Gorenflo, Derliz Mereles, Stefan Kölker, Christian Staufner
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study. Children (Basel, Switzerland) 10 (1) (2023)
Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy, Joseph A Church, Ellen Crushell, Anke Dick, Felix Distelmaier, Jidnyasa Gujar, Giuseppe Indolfi, Eberhard Lurz, Bianca Peters, Tobias Schwerd, Daniele Serranti, Stefan Kölker, Christoph Klein, Georg F Hoffmann, Holger Prokisch, Johann Greil, Adelheid Cerwenka, Thomas Giese, Christian Staufner
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency. Journal of clinical immunology 41 (8) (2021)
Dominic Lenz, Desirée E C Smith, Ellen Crushell, Ralf A Husain, Gajja S Salomons, Bader Alhaddad, Jonathan A Bernstein, Alyssa Bianzano, Saskia Biskup, Heiko Brennenstuhl, Dominique Caldari, Nicola Dikow, Tobias B Haack, Andrea Hanson-Kahn, Inga Harting, Denise Horn, Joanne Hughes, Maya Huijberts, Bertrand Isidor, Simone Kathemann, Robert Kopajtich, Urania Kotzaeridou, Sébastien Küry, Elke Lainka, Lucia Laugwitz, James R Lupski, Jennifer E Posey, Claire Reynolds, Jill A Rosenfeld, Julian Schröter, Fleur Vansenne, Matias Wagner, Claudia Weiß, Bruce H R Wolffenbuttel, Saskia B Wortmann, Stefan Kölker, Georg F Hoffmann, Holger Prokisch, Marisa I Mendes, Christian Staufner
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. Genetics in medicine : official journal of the American College of Medical Genetics 22 (11) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Christian Staufner