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Journal of Gastroenterology and Hepatology
|
September 18, 2007
Congenital veno-venous malformations of the liver: widely variable clinical presentations
Peter Witters, Geert Maleux, Christophe George, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
Peter Witters, Shawn Tahata, Rita Barone, et al.
Orphanet Journal of Rare Diseases
|
December 14, 2022
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
George A Diaz, Roberto Giugliani, Nathalie Guffon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Orphanet Journal of Rare Diseases
|
May 3, 2018
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
Giorgia Bucciol, David Cassiman, Tania Roskams, et al.
The FEBS Journal
|
November 14, 2018
Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B
Lise Boon, Estefania Ugarte-Berzal, Erik Martens, et al.
Cellular and Molecular Life Sciences : CMLS
|
June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Clinical Genetics
|
June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Christina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
March 22, 2017
Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelines
Joaquim Calvo-Lerma, Jessie M Hulst, Inês Asseiceira, et al.
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of 8
Search research articles
Search
Showing results (41-50 of 73) with videos related to
Sort By:
Page
of 8
Journal of Gastroenterology and Hepatology
|
September 18, 2007
Congenital veno-venous malformations of the liver: widely variable clinical presentations
Peter Witters, Geert Maleux, Christophe George, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
Peter Witters, Shawn Tahata, Rita Barone, et al.
Orphanet Journal of Rare Diseases
|
December 14, 2022
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
George A Diaz, Roberto Giugliani, Nathalie Guffon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Orphanet Journal of Rare Diseases
|
May 3, 2018
Liver transplantation for very severe hepatopulmonary syndrome due to vitamin A-induced chronic liver disease in a patient with Shwachman-Diamond syndrome
Giorgia Bucciol, David Cassiman, Tania Roskams, et al.
The FEBS Journal
|
November 14, 2018
Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B
Lise Boon, Estefania Ugarte-Berzal, Erik Martens, et al.
Cellular and Molecular Life Sciences : CMLS
|
June 27, 2025
Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation
Andrea Jáñez Pedrayes, Sam De Craemer, Jakub Idkowiak, et al.
Clinical Genetics
|
June 24, 2021
Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy
Christina K Rapp, Ine Van Dijck, Lucia Laugwitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 19, 2022
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Silvia Radenkovic, Diego Martinelli, Yuebo Zhang, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
March 22, 2017
Nutritional status, nutrient intake and use of enzyme supplements in paediatric patients with Cystic Fibrosis; a European multicentre study with reference to current guidelines
Joaquim Calvo-Lerma, Jessie M Hulst, Inês Asseiceira, et al.
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of 8