Hans R Waterham

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 7

Top Topics

Endoplasmic Reticulum

Gene Expression

Top Venues

Journal of inherited metabolic disease

Physiological reviews

Cold Spring Harbor molecular case studies

This page only lists publications with an associated author ORCID identifier.

Publications

Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome. Journal of inherited metabolic disease (2023)
Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome. Journal of inherited metabolic disease 47 (2) (2023)
Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome. Journal of inherited metabolic disease 47 (2) (2023)
Frouwkje A Politiek, Marjolein Turkenburg, Janet Koster, Rob Ofman, Hans R Waterham
Identification of FDA-approved drugs that increase mevalonate kinase in hyper IgD syndrome. Journal of inherited metabolic disease 47 (2) (2023)
Ingeborg Hauth, Hans R Waterham, Ronald J A Wanders, Saskia N van der Crabben, Clara D M van Karnebeek
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification. Cold Spring Harbor molecular case studies 8 (2) (2022)
Ronald J A Wanders, Myriam Baes, Daniela Ribeiro, Sacha Ferdinandusse, Hans R Waterham
The physiological functions of human peroxisomes. Physiological reviews 103 (1) (2022)
Sacha Ferdinandusse, Heleen Te Brinke, Jos P N Ruiter, Janet Haasjes, Wendy Oostheim, Henk van Lenthe, Lodewijk IJlst, Merel S Ebberink, Ronald J A Wanders, Frédéric M Vaz, Hans R Waterham
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency. Human mutation 40 (10) (2019)