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Orphanet Journal of Rare Diseases
|
February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C Edmondson, Christina Lam, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
April 22, 2004
Human T cell activation by costimulatory signal-deficient allogeneic cells induces inducible costimulator-expressing anergic T cells with regulatory cell activity
Jan Vermeiren, Jan L Ceuppens, Marijke Van Ghelue, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
September 8, 2009
Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease
Peter Witters, Kris De Boeck, Lieven Dupont, et al.
Molecular Metabolism
|
June 30, 2022
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction
Isabelle Adant, Matthew Bird, Bram Decru, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
Willy Morelle, Sven Potelle, Peter Witters, et al.
JIMD Reports
|
February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
Metabolites
|
October 30, 2019
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease
Matthew J Bird, Isabelle Adant, Petra Windmolders, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency
Maurizio Scarpa, George A Diaz, Roberto Giugliani, et al.
Molecular Genetics and Metabolism
|
November 10, 2016
Autism in patients with propionic acidemia
Peter Witters, Eric Debbold, Kea Crivelly, et al.
Plos One
|
December 21, 2018
Optimisation of children z-score calculation based on new statistical techniques
Antonio Martinez-Millana, Jessie M Hulst, Mieke Boon, et al.
Page
of 8
Search research articles
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Showing results (31-40 of 73) with videos related to
Sort By:
Page
of 8
Orphanet Journal of Rare Diseases
|
February 26, 2021
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study
Peter Witters, Andrew C Edmondson, Christina Lam, et al.
Journal of Immunology (Baltimore, Md. : 1950)
|
April 22, 2004
Human T cell activation by costimulatory signal-deficient allogeneic cells induces inducible costimulator-expressing anergic T cells with regulatory cell activity
Jan Vermeiren, Jan L Ceuppens, Marijke Van Ghelue, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|
September 8, 2009
Non-invasive liver elastography (Fibroscan) for detection of cystic fibrosis-associated liver disease
Peter Witters, Kris De Boeck, Lieven Dupont, et al.
Molecular Metabolism
|
June 30, 2022
Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction
Isabelle Adant, Matthew Bird, Bram Decru, et al.
The Journal of Clinical Endocrinology and Metabolism
|
March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
Willy Morelle, Sven Potelle, Peter Witters, et al.
JIMD Reports
|
February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
Metabolites
|
October 30, 2019
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease
Matthew J Bird, Isabelle Adant, Petra Windmolders, et al.
Journal of Inherited Metabolic Disease
|
September 12, 2025
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency
Maurizio Scarpa, George A Diaz, Roberto Giugliani, et al.
Molecular Genetics and Metabolism
|
November 10, 2016
Autism in patients with propionic acidemia
Peter Witters, Eric Debbold, Kea Crivelly, et al.
Plos One
|
December 21, 2018
Optimisation of children z-score calculation based on new statistical techniques
Antonio Martinez-Millana, Jessie M Hulst, Mieke Boon, et al.
Page
of 8