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Gut
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November 18, 2025
Intestinal blood vessel-associated macrophages and gut-vascular barrier dysfunction in cirrhosis
Lena Smets, Maria Francesca Viola, Markus Boesch, et al.
The Lancet. Haematology
|
May 2, 2026
Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network
Yonatan Edel, Penelope E Stein, Hassan Kawtharany, et al.
American Journal of Human Genetics
|
July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Charlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Frontiers in Genetics
|
March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E Naomi Vos, Ivo Barić, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Nature
|
February 8, 2019
Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity
Kim Vriens, Stefan Christen, Sweta Parik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
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of 21
Search research articles
Search
Showing results (191-200 of 201) with videos related to
Sort By:
Page
of 21
Gut
|
November 18, 2025
Intestinal blood vessel-associated macrophages and gut-vascular barrier dysfunction in cirrhosis
Lena Smets, Maria Francesca Viola, Markus Boesch, et al.
The Lancet. Haematology
|
May 2, 2026
Guidelines for the management of acute porphyria: recommendations from the International Porphyria Network
Yonatan Edel, Penelope E Stein, Hassan Kawtharany, et al.
American Journal of Human Genetics
|
July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Charlotte L Alston, Alison G Compton, Luke E Formosa, et al.
Frontiers in Genetics
|
March 1, 2024
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis, E Naomi Vos, Ivo Barić, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2022
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, et al.
Nature
|
February 8, 2019
Evidence for an alternative fatty acid desaturation pathway increasing cancer plasticity
Kim Vriens, Stefan Christen, Sweta Parik, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2021
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
Sacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
Page
of 21