Search research articles
Contact Us
Filters
Showing results (21-30 of 55) with videos related to
Page
of 6
Sort By:
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, 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.
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.
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
|
July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
February 28, 2022
Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition Monothematic Conference, 2020: "Acute Liver Failure in Children": Treatment and Directions for Future Research
Aglaia Zellos, Dominique Debray, Giuseppe Indolfi, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
February 28, 2022
Proceedings of ESPGHAN Monothematic Conference 2020: "Acute Liver Failure in Children": Diagnosis and Initial Management
Aglaia Zellos, Dominique Debray, Giuseppe Indolfi, 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.
Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Page
of 6
Search research articles
Search
Showing results (21-30 of 55) with videos related to
Sort By:
Page
of 6
Molecular Genetics and Metabolism
|
July 10, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders
Christina Evers, Christian Staufner, Martin Granzow, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, 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.
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.
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
|
July 2, 2024
MRI in LARS1 deficiency-Spectrum, patterns, and correlation with acute neurological deterioration
Nicole Hammann, Dominic Lenz, Alyssa Bianzano, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
February 28, 2022
Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition Monothematic Conference, 2020: "Acute Liver Failure in Children": Treatment and Directions for Future Research
Aglaia Zellos, Dominique Debray, Giuseppe Indolfi, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
February 28, 2022
Proceedings of ESPGHAN Monothematic Conference 2020: "Acute Liver Failure in Children": Diagnosis and Initial Management
Aglaia Zellos, Dominique Debray, Giuseppe Indolfi, 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.
Journal of Clinical Immunology
|
August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency
Dominic Lenz, Jens Pahl, Fabian Hauck, et al.
Page
of 6