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Thomas Opladen

Showing results (1-10 of 95) with videos related to

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Journal of Inherited Metabolic Disease|July 8, 2018
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolismSabine Jung-Klawitter, Thomas Opladen
The FEBS Journal|July 24, 2025
A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failureSema Kalkan Uçar, Cem Yıldırım, Thomas Opladen
Molecular Genetics and Metabolism|July 13, 2010
Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transportThomas Opladen, Nenad Blau, Vincent Th Ramaekers
Journal of Inherited Metabolic Disease|June 26, 2012
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemiaThomas Opladen, Georg F Hoffmann, Nenad Blau
American Journal of Medical Genetics. Part A|August 29, 2020
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndromeRobert Meyer, Miriam Elbracht, Thomas Opladen, et al.
Frontiers in Endocrinology|March 23, 2022
Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European ExperienceStefan Kölker, Florian Gleich, Ulrike Mütze, et al.
Molecular Genetics and Metabolism|November 29, 2005
Analysis of 5-methyltetrahydrofolate in serum of healthy childrenThomas Opladen, Vincent Th Ramaekers, Gerhard Heimann, et al.
GMS Journal for Medical Education|December 12, 2017
Entrustable professional activities in post-licensure training in primary care pediatrics: Necessity, development and implementation of a competency-based post-graduate curriculumFolkert Fehr, Christoph Weiß-Becker, Hera Becker, et al.
Neuropediatrics|October 30, 2018
Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and TreatmentHeiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, et al.
Molecular Genetics and Metabolism|February 5, 2013
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystoniaThomas Opladen, Georg F Hoffmann, Andrea A Kühn, et al.
Pageof 10

Showing results (1-10 of 95) with videos related to

Sort By:
Pageof 10
Journal of Inherited Metabolic Disease|July 8, 2018
Induced pluripotent stem cells (iPSCs) as model to study inherited defects of neurotransmission in inborn errors of metabolismSabine Jung-Klawitter, Thomas Opladen
The FEBS Journal|July 24, 2025
A CRISPR/Cas9 knockout model for AADC deficiency reveals structural loop3 instability as a key driver of catalytic failureSema Kalkan Uçar, Cem Yıldırım, Thomas Opladen
Molecular Genetics and Metabolism|July 13, 2010
Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transportThomas Opladen, Nenad Blau, Vincent Th Ramaekers
Journal of Inherited Metabolic Disease|June 26, 2012
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemiaThomas Opladen, Georg F Hoffmann, Nenad Blau
American Journal of Medical Genetics. Part A|August 29, 2020
Patient with an autosomal-recessive MBTPS1-linked phenotype and clinical features of Silver-Russell syndromeRobert Meyer, Miriam Elbracht, Thomas Opladen, et al.
Frontiers in Endocrinology|March 23, 2022
Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European ExperienceStefan Kölker, Florian Gleich, Ulrike Mütze, et al.
Molecular Genetics and Metabolism|November 29, 2005
Analysis of 5-methyltetrahydrofolate in serum of healthy childrenThomas Opladen, Vincent Th Ramaekers, Gerhard Heimann, et al.
GMS Journal for Medical Education|December 12, 2017
Entrustable professional activities in post-licensure training in primary care pediatrics: Necessity, development and implementation of a competency-based post-graduate curriculumFolkert Fehr, Christoph Weiß-Becker, Hera Becker, et al.
Neuropediatrics|October 30, 2018
Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and TreatmentHeiko Brennenstuhl, Sabine Jung-Klawitter, Birgit Assmann, et al.
Molecular Genetics and Metabolism|February 5, 2013
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystoniaThomas Opladen, Georg F Hoffmann, Andrea A Kühn, et al.
Pageof 10