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July 28, 2023
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants
Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.
Journal of Child Neurology
|
January 19, 2013
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience
Lena Schleede, Wolfgang Bueter, Sara Baumgartner-Sigl, et al.
Journal of Inherited Metabolic Disease
|
October 14, 2017
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, et al.
Journal of Inherited Metabolic Disease
|
July 4, 2023
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
Agathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, et al.
Journal of Neurology
|
May 11, 2011
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
Eduardo López-Laso, Araceli Sánchez-Raya, Juan Antonio Moriana, et al.
Epilepsia
|
March 24, 2023
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L DiBacco, et al.
Molecular Genetics and Metabolism
|
February 7, 2025
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism
Itay Tokatly Latzer, Ellen Hanson, Mariarita Bertoldi, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Molecular Genetics and Metabolism
|
November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis
Thomas Opladen, Martin Lindner, Anibh M Das, et al.
Journal of Neurodevelopmental Disorders
|
April 24, 2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, et al.
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Search research articles
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Showing results (61-70 of 95) with videos related to
Sort By:
Page
of 10
Research Square
|
July 28, 2023
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants
Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, et al.
Journal of Child Neurology
|
January 19, 2013
Pediatric herpes simplex virus encephalitis: a retrospective multicenter experience
Lena Schleede, Wolfgang Bueter, Sara Baumgartner-Sigl, et al.
Journal of Inherited Metabolic Disease
|
October 14, 2017
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg, Thomas Opladen, Ute Spiekerkötter, et al.
Journal of Inherited Metabolic Disease
|
July 4, 2023
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
Agathe Roubertie, Thomas Opladen, Heiko Brennenstuhl, et al.
Journal of Neurology
|
May 11, 2011
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease
Eduardo López-Laso, Araceli Sánchez-Raya, Juan Antonio Moriana, et al.
Epilepsia
|
March 24, 2023
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency
Itay Tokatly Latzer, Mariarita Bertoldi, Melissa L DiBacco, et al.
Molecular Genetics and Metabolism
|
February 7, 2025
The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism
Itay Tokatly Latzer, Ellen Hanson, Mariarita Bertoldi, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
Thomas Opladen, Elisenda Cortès-Saladelafont, Mario Mastrangelo, et al.
Molecular Genetics and Metabolism
|
November 25, 2015
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis
Thomas Opladen, Martin Lindner, Anibh M Das, et al.
Journal of Neurodevelopmental Disorders
|
April 24, 2024
Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, et al.
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of 10