Mirian C. Janssen

International Paediatric Mitochondrial Disease Scale

Marni J. Falk, V. Wong, J. Hendriks, 2016, Journal of Inherited Metabolic Disease.

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

S. Ferdinandusse, C. Hollak, M. D. De Vries, 2020, Molecular genetics and metabolism.

The 1‐13C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes

S. Ferdinandusse, C. Hollak, M. D. De Vries, 2019, Journal of inherited metabolic disease.

Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study

C. Hollak, L. D. de Sonneville, S. Huijbregts, 2017, Neuropsychology.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

S. Wortmann, C. Hollak, K. Õunap, 2017, Fertility and sterility.

Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway

C. Hollak, F. Eyskens, D. Cassiman, 2022, Journal of inherited metabolic disease.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

M. Baumgartner, B. Seifert, H. Blom, 2018, Journal of Inherited Metabolic Disease.

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities

Merel E. Hermans, M. D. De Vries, J. Langendonk, 2020, Orphanet Journal of Rare Diseases.