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Thomas Opladen

Showing results (41-50 of 95) with videos related to

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Plos One|April 18, 2019
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasisMaximilian Breuer, Luca Guglielmi, Matthias Zielonka, et al.
Journal of Inherited Metabolic Disease|December 19, 2019
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spotsHeiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, et al.
Molecular and Cellular Endocrinology|November 9, 2011
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?Carolin S Hoefig, Kostja Renko, Susanne Piehl, et al.
Orphanet Journal of Rare Diseases|February 19, 2021
U-IMD: the first Unified European registry for inherited metabolic diseasesThomas Opladen, Florian Gleich, Viktor Kozich, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eyeChristina Evers, Angelika Seitz, Birgit Assmann, et al.
EMBO Molecular Medicine|August 23, 2021
Gene therapy in the putamen for curing AADC deficiency and Parkinson's diseasePaul Wuh-Liang Hwu, Karl Kiening, Irina Anselm, et al.
Journal of Inherited Metabolic Disease|January 14, 2020
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platformGlynis Klinke, Sylvia Richter, Péter Monostori, et al.
Journal of Inherited Metabolic Disease|September 28, 2016
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disordersIvo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 DeficiencyFabio Bruschi, Ylenia Vaia, Clara E Antonello, et al.
Neurology. Genetics|November 18, 2017
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystoniaAli S Shalash, Thomas W Rösler, Stefanie H Müller, et al.
Pageof 10

Showing results (41-50 of 95) with videos related to

Sort By:
Pageof 10
Plos One|April 18, 2019
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasisMaximilian Breuer, Luca Guglielmi, Matthias Zielonka, et al.
Journal of Inherited Metabolic Disease|December 19, 2019
High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spotsHeiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer, et al.
Molecular and Cellular Endocrinology|November 9, 2011
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?Carolin S Hoefig, Kostja Renko, Susanne Piehl, et al.
Orphanet Journal of Rare Diseases|February 19, 2021
U-IMD: the first Unified European registry for inherited metabolic diseasesThomas Opladen, Florian Gleich, Viktor Kozich, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eyeChristina Evers, Angelika Seitz, Birgit Assmann, et al.
EMBO Molecular Medicine|August 23, 2021
Gene therapy in the putamen for curing AADC deficiency and Parkinson's diseasePaul Wuh-Liang Hwu, Karl Kiening, Irina Anselm, et al.
Journal of Inherited Metabolic Disease|January 14, 2020
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platformGlynis Klinke, Sylvia Richter, Péter Monostori, et al.
Journal of Inherited Metabolic Disease|September 28, 2016
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disordersIvo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 27, 2025
Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 DeficiencyFabio Bruschi, Ylenia Vaia, Clara E Antonello, et al.
Neurology. Genetics|November 18, 2017
c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystoniaAli S Shalash, Thomas W Rösler, Stefanie H Müller, et al.
Pageof 10