A. Bosch

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.

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

M. Heiner-Fokkema, F. Wijburg, F. V. van Spronsen, 2023, International journal of neonatal screening.

Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

S. Ferdinandusse, H. Waterham, R. Wanders, 2019, Journal of inherited metabolic disease.

Clinical features of galactokinase deficiency:A review of the literature

R. Wanders, F. Wijburg, A. Bosch, 2003, Journal of Inherited Metabolic Disease.

Brain function in classic galactosemia, a galactosemia network (GalNet) members review

P. Tanpaiboon, A. Skouma, M. Brouwers, 2024, Frontiers in Genetics.

Psychosocial developmental milestones in men with classic galactosemia

S. Waisbren, H. Maurice‐Stam, C. S. Gubbels, 2011, Journal of Inherited Metabolic Disease.