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American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Orphanet Journal of Rare Diseases
|
December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
September 9, 2020
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis
Darrick K Li, Muhammad Rehan Khan, Zhen Wang, et al.
Molecular Therapy. Methods & Clinical Development
|
February 20, 2020
Novel <i>GAA</i> Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
Stijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
Nature Communications
|
March 15, 2020
Amino acid levels determine metabolism and CYP450 function of hepatocytes and hepatoma cell lines
Ruben Boon, Manoj Kumar, Tine Tricot, et al.
Hepatology (Baltimore, Md.)
|
May 18, 2024
Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure
Rita Feio-Azevedo, Markus Boesch, Silvia Radenkovic, et al.
Brain : a Journal of Neurology
|
June 26, 2008
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
Arvid Suls, Peter Dedeken, Karolien Goffin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 19, 2020
Galactokinase deficiency: lessons from the GalNet registry
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Nature Communications
|
November 19, 2022
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation
Maria Stahl Madsen, Marjoleine F Broekema, Martin Rønn Madsen, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
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of 21
Search research articles
Search
Showing results (181-190 of 201) with videos related to
Sort By:
Page
of 21
American Journal of Human Genetics
|
April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Orphanet Journal of Rare Diseases
|
December 6, 2019
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
September 9, 2020
Normal liver stiffness and influencing factors in healthy children: An individual participant data meta-analysis
Darrick K Li, Muhammad Rehan Khan, Zhen Wang, et al.
Molecular Therapy. Methods & Clinical Development
|
February 20, 2020
Novel <i>GAA</i> Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis
Stijn L M In 't Groen, Douglas O S de Faria, Alessandro Iuliano, et al.
Nature Communications
|
March 15, 2020
Amino acid levels determine metabolism and CYP450 function of hepatocytes and hepatoma cell lines
Ruben Boon, Manoj Kumar, Tine Tricot, et al.
Hepatology (Baltimore, Md.)
|
May 18, 2024
Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure
Rita Feio-Azevedo, Markus Boesch, Silvia Radenkovic, et al.
Brain : a Journal of Neurology
|
June 26, 2008
Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1
Arvid Suls, Peter Dedeken, Karolien Goffin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 19, 2020
Galactokinase deficiency: lessons from the GalNet registry
M Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, et al.
Nature Communications
|
November 19, 2022
PPARγ lipodystrophy mutants reveal intermolecular interactions required for enhancer activation
Maria Stahl Madsen, Marjoleine F Broekema, Martin Rønn Madsen, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Page
of 21