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Journal of Inherited Metabolic Disease
|
February 20, 2024
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
Denise Aldrian, Birgit Waldner, Georg F Vogel, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 20, 2026
BORC assemblies integrate BLOC-1 subunits to diversify endosomal trafficking functions
Mariana E G de Araujo, Sascha J Amann, Taras Stasyk, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
August 25, 2025
ATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver
Jung-Chin Chang, Wietse In Het Panhuis, Shu-Hao Hsu, et al.
Gastroenterology
|
April 15, 2014
Loss of syntaxin 3 causes variant microvillus inclusion disease
Caroline L Wiegerinck, Andreas R Janecke, Kerstin Schneeberger, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Circulation
|
April 4, 2023
Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification
Can Gollmann-Tepeköylü, Michael Graber, Jakob Hirsch, et al.
The Journal of Clinical Investigation
|
May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.
Journal of Clinical Medicine
|
February 2, 2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations
Denise Aldrian, Georg F Vogel, Teresa K Frey, et al.
Gastroenterology
|
November 26, 2025
Fecal Detection of Calprotectin Subunits Links Inflammatory Bowel Disease Activity With Chronicity of Intestinal Inflammation
Almina Jukic, Richard Hilbe, Luis Zundel, et al.
European Heart Journal
|
April 1, 2020
The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development
Egon Demetz, Piotr Tymoszuk, Richard Hilbe, et al.
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Search research articles
Search
Showing results (31-40 of 46) with videos related to
Sort By:
Page
of 5
Journal of Inherited Metabolic Disease
|
February 20, 2024
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
Denise Aldrian, Birgit Waldner, Georg F Vogel, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
January 20, 2026
BORC assemblies integrate BLOC-1 subunits to diversify endosomal trafficking functions
Mariana E G de Araujo, Sascha J Amann, Taras Stasyk, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
August 25, 2025
ATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver
Jung-Chin Chang, Wietse In Het Panhuis, Shu-Hao Hsu, et al.
Gastroenterology
|
April 15, 2014
Loss of syntaxin 3 causes variant microvillus inclusion disease
Caroline L Wiegerinck, Andreas R Janecke, Kerstin Schneeberger, et al.
Liver International : Official Journal of the International Association for the Study of the Liver
|
May 28, 2025
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Bianca Peters, Lea Dewi Schlieben, Heiko Brennenstuhl, et al.
Circulation
|
April 4, 2023
Toll-Like Receptor 3 Mediates Aortic Stenosis Through a Conserved Mechanism of Calcification
Can Gollmann-Tepeköylü, Michael Graber, Jakob Hirsch, et al.
The Journal of Clinical Investigation
|
May 16, 2022
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, et al.
Journal of Clinical Medicine
|
February 2, 2021
Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B Mutations
Denise Aldrian, Georg F Vogel, Teresa K Frey, et al.
Gastroenterology
|
November 26, 2025
Fecal Detection of Calprotectin Subunits Links Inflammatory Bowel Disease Activity With Chronicity of Intestinal Inflammation
Almina Jukic, Richard Hilbe, Luis Zundel, et al.
European Heart Journal
|
April 1, 2020
The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development
Egon Demetz, Piotr Tymoszuk, Richard Hilbe, et al.
Page
of 5