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International Journal of Molecular Sciences
|
October 13, 2021
Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders
Khaled I Alatibi, Stefan Tholen, Zeinab Wehbe, et al.
Molecular Genetics and Metabolism
|
October 24, 2022
Altered gut microbiome diversity and function in patients with propionic acidemia
Sebastian Tims, Cyril Marsaux, Alex Pinto, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, et al.
Metabolites
|
April 21, 2022
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, et al.
International Journal of Molecular Sciences
|
May 25, 2024
Altered Serum Proteins Suggest Inflammation, Fibrogenesis and Angiogenesis in Adult Patients with a Fontan Circulation
Miriam Michel, David Renaud, Ronny Schmidt, et al.
Congenital Heart Disease
|
August 23, 2018
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon)
Katharina Niedermayr, Gerhard Pölzl, Sabine Scholl-Bürgi, et al.
Annals of Human Genetics
|
May 22, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
Birgit Krabichler, Kevin Rostasy, Matthias Baumann, et al.
Orphanet Journal of Rare Diseases
|
August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
Cellular and Molecular Life Sciences : CMLS
|
January 10, 2023
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism
Yvonne Wohlfarter, Reiner Eidelpes, Ryan D Yu, et al.
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Search research articles
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Showing results (51-60 of 129) with videos related to
Sort By:
Page
of 13
International Journal of Molecular Sciences
|
October 13, 2021
Lipidomic and Proteomic Alterations Induced by Even and Odd Medium-Chain Fatty Acids on Fibroblasts of Long-Chain Fatty Acid Oxidation Disorders
Khaled I Alatibi, Stefan Tholen, Zeinab Wehbe, et al.
Molecular Genetics and Metabolism
|
October 24, 2022
Altered gut microbiome diversity and function in patients with propionic acidemia
Sebastian Tims, Cyril Marsaux, Alex Pinto, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Orphanet Journal of Rare Diseases
|
April 19, 2015
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)
Daniela Karall, Michaela Brunner-Krainz, Katharina Kogelnig, et al.
Metabolites
|
April 21, 2022
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, et al.
International Journal of Molecular Sciences
|
May 25, 2024
Altered Serum Proteins Suggest Inflammation, Fibrogenesis and Angiogenesis in Adult Patients with a Fontan Circulation
Miriam Michel, David Renaud, Ronny Schmidt, et al.
Congenital Heart Disease
|
August 23, 2018
Mitochondrial DNA mutation "m.3243A>G"-Heterogeneous clinical picture for cardiologists ("m.3243A>G": A phenotypic chameleon)
Katharina Niedermayr, Gerhard Pölzl, Sabine Scholl-Bürgi, et al.
Annals of Human Genetics
|
May 22, 2012
Novel mutation in potassium channel related gene KCTD7 and progressive myoclonic epilepsy
Birgit Krabichler, Kevin Rostasy, Matthias Baumann, et al.
Orphanet Journal of Rare Diseases
|
August 20, 2021
A retrospective study on disease management in children and adolescents with phenylketonuria during the Covid-19 pandemic lockdown in Austria
Marion Herle, Michaela Brunner-Krainz, Daniela Karall, et al.
Cellular and Molecular Life Sciences : CMLS
|
January 10, 2023
Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism
Yvonne Wohlfarter, Reiner Eidelpes, Ryan D Yu, et al.
Page
of 13