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Thomas Opladen

Showing results (81-90 of 95) with videos related to

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Molecular Genetics and Metabolism|March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Pageof 10

Showing results (81-90 of 95) with videos related to

Sort By:
Pageof 10
Molecular Genetics and Metabolism|March 7, 2024
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiencyItay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Inherited Metabolic Disease|January 14, 2021
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patientsOya Kuseyri Hübschmann, Alexander Mohr, Jennifer Friedman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2020
Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonusMatias Wagner, Jonathan Lévy, Sabine Jung-Klawitter, et al.
Journal of Inherited Metabolic Disease|July 10, 2021
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registryMareike Keller, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, et al.
American Journal of Human Genetics|January 31, 2017
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual DisabilityYair Anikster, Tobias B Haack, Thierry Vilboux, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
Pageof 10