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 · 212 citations · Full text

Life Sciences, Biochemistry, Clinical Nutrition +16

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 · 148 citations · Full text

Medicine, Endocrinology, Pediatrics +16

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 · 130 citations · Full text

Pharmacy, Neurology, Pharmacotherapy +14

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 · 60 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +16

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

Life Sciences, Endocrinology, Physiology +14