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Journal of Inherited Metabolic Disease
|
August 21, 2023
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects
Felix Köpfer, Sven F Garbade, Kristina Klingbeil, et al.
Biomolecules
|
March 28, 2026
Urinary Metabolomics Predict Acute Kidney Injury in Very-Low-Birth-Weight Infants with Patent Ductus Arteriosus
Moritz Niesert, Claire Cannet, Alexander Fichtner, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2020
Quantitative retrospective natural history modeling for orphan drug development
Sven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.
Orphanet Journal of Rare Diseases
|
November 13, 2021
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Daniela Choukair, Fabian Hauck, Markus Bettendorf, et al.
Hepatobiliary Surgery and Nutrition
|
January 7, 2016
Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH)
Ulrike Teufel, Teresa Peccerella, Guido Engelmann, et al.
Human Mutation
|
March 26, 2003
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
T B Nga Ly, Verena Peters, K Michael Gibson, et al.
Molecular Genetics and Metabolism
|
July 10, 2021
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22]
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Journal of Inherited Metabolic Disease
|
May 1, 2012
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance
Peter Burgard, Kathrin Rupp, Martin Lindner, et al.
American Journal of Human Genetics
|
September 11, 2004
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
Matthias R Baumgartner, M Fernanda Dantas, Terttu Suormala, 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 platform
Glynis Klinke, Sylvia Richter, Péter Monostori, et al.
Page
of 39
Search research articles
Search
Showing results (191-200 of 381) with videos related to
Sort By:
Page
of 39
Journal of Inherited Metabolic Disease
|
August 21, 2023
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects
Felix Köpfer, Sven F Garbade, Kristina Klingbeil, et al.
Biomolecules
|
March 28, 2026
Urinary Metabolomics Predict Acute Kidney Injury in Very-Low-Birth-Weight Infants with Patent Ductus Arteriosus
Moritz Niesert, Claire Cannet, Alexander Fichtner, et al.
Journal of Inherited Metabolic Disease
|
August 27, 2020
Quantitative retrospective natural history modeling for orphan drug development
Sven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.
Orphanet Journal of Rare Diseases
|
November 13, 2021
An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Daniela Choukair, Fabian Hauck, Markus Bettendorf, et al.
Hepatobiliary Surgery and Nutrition
|
January 7, 2016
Detection of carcinogenic etheno-DNA adducts in children and adolescents with non-alcoholic steatohepatitis (NASH)
Ulrike Teufel, Teresa Peccerella, Guido Engelmann, et al.
Human Mutation
|
March 26, 2003
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
T B Nga Ly, Verena Peters, K Michael Gibson, et al.
Molecular Genetics and Metabolism
|
July 10, 2021
Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22]
Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, et al.
Journal of Inherited Metabolic Disease
|
May 1, 2012
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance
Peter Burgard, Kathrin Rupp, Martin Lindner, et al.
American Journal of Human Genetics
|
September 11, 2004
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy
Matthias R Baumgartner, M Fernanda Dantas, Terttu Suormala, 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 platform
Glynis Klinke, Sylvia Richter, Péter Monostori, et al.
Page
of 39