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Publications by Jaak Jaeken
Mutations in MAGT1 Lead to a Glycosylation Disorder With a Variable Phenotype
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Clinical Utility Gene Card For: GALNT3 Defective Congenital Disorder of Glycosylation
European Journal of Human Genetics
Genetics
International Clinical Guidelines for the Management of Phosphomannomutase 2-Congenital Disorders of Glycosylation: Diagnosis, Treatment and Follow Up
Journal of Inherited Metabolic Disease
Genetics
Erratum To: What Is New in CDG?
Journal of Inherited Metabolic Disease
Genetics
Patient and Observer Reported Outcome Measures to Evaluate Health-Related Quality of Life in Inherited Metabolic Diseases: A Scoping Review
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Electroclinical Features of Early-Onset Epileptic Encephalopathies in Congenital Disorders of Glycosylation (CDGs)
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
MPDU1 Mutations Underlie a Novel Human Congenital Disorder of Glycosylation, Designated Type If
Journal of Clinical Investigation
Medicine
Prenatal Diagnosis in CDG1 Families: Beware of Heterogeneity
European Journal of Human Genetics
Genetics
A Unique Pattern of Coagulation Abnormalities in Carbohydrate-Deficient Glycoprotein Syndrome
Pediatric Research
Child Health
Pediatrics
Perinatology
