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Thomas Opladen

Showing results (71-80 of 95) with videos related to

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Scientific Reports|November 9, 2017
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patientsMarta Batllori, Marta Molero-Luis, Luisa Arrabal, et al.
Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease SeverityAlba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Journal of Inherited Metabolic Disease|May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patientsToni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Annals of Neurology|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic HyperglycinemiaOya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa TreatmentNina-Maria Wilpert, Angela L Hewitt, Roser Pons, et al.
Neuroradiology|June 6, 2022
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disordersChiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyNatalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.
Pageof 10

Showing results (71-80 of 95) with videos related to

Sort By:
Pageof 10
Scientific Reports|November 9, 2017
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patientsMarta Batllori, Marta Molero-Luis, Luisa Arrabal, et al.
Journal of Inherited Metabolic Disease|November 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) DeficiencyMariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease SeverityAlba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Journal of Inherited Metabolic Disease|May 6, 2020
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patientsToni S Pearson, Laura Gilbert, Thomas Opladen, et al.
Annals of Neurology|May 26, 2022
Integrative Approach to Predict Severity in Nonketotic HyperglycinemiaOya Kuseyri Hübschmann, Natalia Alexandra Juliá-Palacios, Mireia Olivella, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa TreatmentNina-Maria Wilpert, Angela L Hewitt, Roser Pons, et al.
Neuroradiology|June 6, 2022
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disordersChiara Alfonsi, Christian Stephan-Otto, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyNatalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.
Pageof 10