Hanneke A. Haijes

Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients’ Dried Blood Spots and Plasma

Hanneke A. Haijes, Marcel Willemsen, Maria van der Ham et al. · Metabolites · 2019 · 81 citations · Full text

Metabolic Disorder, Metabolomic Profiling, Pathology +19

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Hanneke A. Haijes, Maria J.E. Koster, Holger Rehmann et al. · The American Journal of Human Genetics · 2019 · 69 citations · Full text

Neurodevelopmental Disorders, Developmental Anomaly, Developmental Biology +13

Key features and clinical variability of COG6-CDG

Daisy Rymen, Julia Winter, Peter M. van Hasselt et al. · Molecular Genetics and Metabolism · 2015 · 55 citations

Key Features, Autoimmune Disease, Diagnostic Test +2

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation

Hanneke A. Haijes, Monique G.M. de Sain–van der Velden, Hubertus C.M.T. Prinsen et al. · Molecular Genetics and Metabolism · 2019 · 49 citations

Medicine, Inherited Metabolic Disease, Pathology +6

Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Hanneke A. Haijes, Judith Jans, Maria van der Ham et al. · Orphanet Journal of Rare Diseases · 2020 · 34 citations · Full text