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Cells
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February 26, 2020
Succinic Semialdehyde Dehydrogenase Deficiency: An Update
Miroslava Didiášová, Antje Banning, Heiko Brennenstuhl, et al.
Journal of Inherited Metabolic Disease
|
April 30, 2022
How longitudinal observational studies can guide screening strategy for rare diseases
Ulrike Mütze, Katharina Mengler, Nikolas Boy, et al.
Journal of Inherited Metabolic Disease
|
October 24, 2025
Trial Readiness: Understanding the Natural History of Rare Diseases
Thomas Opladen, Ulrike Mütze, Florian Gleich, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
October 24, 2022
Validated UPLC-MS/MS method for the analysis of vitamin B<sub>6</sub> pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid
Julia Rossmann, Stine Christ, Sylvia Richter, et al.
The New England Journal of Medicine
|
May 13, 2005
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
Vincent T Ramaekers, Sheldon P Rothenberg, Jeffrey M Sequeira, et al.
Journal of Child Neurology
|
January 4, 2021
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study
Phillip L Pearl, Melissa L DiBacco, Christos Papadelis, et al.
Stem Cell Research
|
May 31, 2022
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy
Julian Schröter, Hanna Syring, Gudrun Göhring, et al.
Molecular Genetics and Metabolism
|
July 18, 2020
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
Heiko Brennenstuhl, Sven F Garbade, Jürgen G Okun, et al.
Stem Cell Research
|
August 5, 2022
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy
Julian Schröter, Hanna Syring, Gudrun Göhring, et al.
Journal of Inherited Metabolic Disease
|
December 12, 2023
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1
Sabine Jung-Klawitter, Petra Richter, Yuheng Yuan, et al.
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of 10
Search research articles
Search
Showing results (21-30 of 95) with videos related to
Sort By:
Page
of 10
Cells
|
February 26, 2020
Succinic Semialdehyde Dehydrogenase Deficiency: An Update
Miroslava Didiášová, Antje Banning, Heiko Brennenstuhl, et al.
Journal of Inherited Metabolic Disease
|
April 30, 2022
How longitudinal observational studies can guide screening strategy for rare diseases
Ulrike Mütze, Katharina Mengler, Nikolas Boy, et al.
Journal of Inherited Metabolic Disease
|
October 24, 2025
Trial Readiness: Understanding the Natural History of Rare Diseases
Thomas Opladen, Ulrike Mütze, Florian Gleich, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
October 24, 2022
Validated UPLC-MS/MS method for the analysis of vitamin B<sub>6</sub> pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid
Julia Rossmann, Stine Christ, Sylvia Richter, et al.
The New England Journal of Medicine
|
May 13, 2005
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
Vincent T Ramaekers, Sheldon P Rothenberg, Jeffrey M Sequeira, et al.
Journal of Child Neurology
|
January 4, 2021
Succinic Semialdehyde Dehydrogenase Deficiency: Review of the Natural History Study
Phillip L Pearl, Melissa L DiBacco, Christos Papadelis, et al.
Stem Cell Research
|
May 31, 2022
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy
Julian Schröter, Hanna Syring, Gudrun Göhring, et al.
Molecular Genetics and Metabolism
|
July 18, 2020
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency
Heiko Brennenstuhl, Sven F Garbade, Jürgen G Okun, et al.
Stem Cell Research
|
August 5, 2022
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy
Julian Schröter, Hanna Syring, Gudrun Göhring, et al.
Journal of Inherited Metabolic Disease
|
December 12, 2023
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1
Sabine Jung-Klawitter, Petra Richter, Yuheng Yuan, et al.
Page
of 10