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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.
Gut
|
May 28, 2009
A novel technique for selective NF-kappaB inhibition in Kupffer cells: contrary effects in fulminant hepatitis and ischaemia-reperfusion
F Hoffmann, G Sass, J Zillies, et al.
American Journal of Human Genetics
|
July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry
D D Hinson, R M Ross, S Krisans, 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.
World Journal of Gastroenterology
|
March 15, 2012
Differential diagnosis in patients with suspected bile acid synthesis defects
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
Annals of Neurology
|
July 1, 1992
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
P G Barth, G F Hoffmann, J Jaeken, et al.
Page
of 126
Search research articles
Search
Showing results (911-920 of 1,255) with videos related to
Sort By:
Page
of 126
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.
Gut
|
May 28, 2009
A novel technique for selective NF-kappaB inhibition in Kupffer cells: contrary effects in fulminant hepatitis and ischaemia-reperfusion
F Hoffmann, G Sass, J Zillies, et al.
American Journal of Human Genetics
|
July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry
D D Hinson, R M Ross, S Krisans, 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.
World Journal of Gastroenterology
|
March 15, 2012
Differential diagnosis in patients with suspected bile acid synthesis defects
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
Annals of Neurology
|
July 1, 1992
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease
P G Barth, G F Hoffmann, J Jaeken, et al.
Page
of 126