Hidde H. Huidekoper

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype

Frédéric M. Vaz, Coen C. Paulusma, Hidde H. Huidekoper et al. · Hepatology · 2014 · 204 citations · Full text

The natural history of classic galactosemia: lessons from the GalNet registry

M. Estela Rubio‐Gozalbo, Minela Haskovic, Annet M. Bosch et al. · Orphanet Journal of Rare Diseases · 2019 · 141 citations · Full text

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

Bianca M. L. Stelten, Hidde H. Huidekoper, Bart P.C. van de Warrenburg et al. · Neurology · 2018 · 122 citations

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

Jordy Dekker, Rachel Schot, Michiel Bongaerts et al. · The American Journal of Human Genetics · 2023 · 52 citations · Full text

Neurodevelopmental Disorders, Functional Genomics, Gene Sequence Annotation +10

Fasting adaptation in idiopathic ketotic hypoglycemia: a mismatch between glucose production and demand

Hidde H. Huidekoper, Marinus Durán, Marjolein Turkenburg et al. · European Journal of Pediatrics · 2007 · 51 citations

Obesity, Metabolic Syndrome, Nutrition +12