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Disease Models & Mechanisms
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October 9, 2025
SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death
John Hellicar, Tal Dattner, Tian Sun, et al.
Computational and Structural Biotechnology Journal
|
February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Julian Schröter, Tal Dattner, Jennifer Hüllein, et al.
Hepatology Communications
|
December 2, 2024
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure
Lea D Schlieben, Melanie T Achleitner, Billy Bourke, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Pediatric Pulmonology
|
August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
Dominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Nucleic Acids Research
|
November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS
Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Journal of Inherited Metabolic Disease
|
April 2, 2024
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Anna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
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.
Journal of Pediatric Gastroenterology and Nutrition
|
March 17, 2023
Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe
Dominic Lenz, Marianne Hørby Jørgensen, Deirdre Kelly, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 38) with videos related to
Sort By:
Page
of 4
Disease Models & Mechanisms
|
October 9, 2025
SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death
John Hellicar, Tal Dattner, Tian Sun, et al.
Computational and Structural Biotechnology Journal
|
February 15, 2023
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
Julian Schröter, Tal Dattner, Jennifer Hüllein, et al.
Hepatology Communications
|
December 2, 2024
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure
Lea D Schlieben, Melanie T Achleitner, Billy Bourke, et al.
Journal of Inherited Metabolic Disease
|
May 20, 2025
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Nicole Hammann, Christian Staufner, Lea Dewi Schlieben, et al.
Pediatric Pulmonology
|
August 25, 2020
Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants
Dominic Lenz, Mirjam Stahl, Elias Seidl, et al.
Nucleic Acids Research
|
November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS
Marisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Journal of Inherited Metabolic Disease
|
April 2, 2024
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
Anna T Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
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.
Journal of Pediatric Gastroenterology and Nutrition
|
March 17, 2023
Etiology and Outcome of Adult and Pediatric Acute Liver Failure in Europe
Dominic Lenz, Marianne Hørby Jørgensen, Deirdre Kelly, et al.
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of 4