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Publications by Hans R. Waterham

Fatty Acid Oxidation Flux Predicts the Clinical Severity of VLCAD Deficiency

Genetics in Medicine

English

Genetic Classification and Mutational Spectrum of More Than 600 Patients With a Zellweger Syndrome Spectrum Disorder

English

Unprenylated RhoA Contributes to IL-1β Hypersecretion in Mevalonate Kinase Deficiency Model Through Stimulation of Rac1 Activity

Journal of Biological Chemistry

Molecular Biology

English

Peroxisomal Fatty Acid Uptake Mechanism inSaccharomyces Cerevisiae

Journal of Biological Chemistry

Molecular Biology

English

Proposal for an Individualized Dietary Strategy in Patients With Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Journal of Inherited Metabolic Disease

English

Effects of Hematopoietic Stem Cell Transplantation on Acyl-CoA Oxidase Deficiency: A Sibling Comparison Study

Journal of Inherited Metabolic Disease

English

Proposal for an Individualized Dietary Strategy in Patients With Very Long-Chain Acyl-CoA Dehydrogenase Deficiency

Journal of Inherited Metabolic Disease

English

Functional Characterisation of Peroxisomal Β-Oxidation Disorders in Fibroblasts Using Lipidomics

Journal of Inherited Metabolic Disease

English

The Challenges of a Successful Pregnancy in a Patient With Adult Refsum’s Disease Due to Phytanoyl-CoA Hydroxylase Deficiency

Internal Medicine

Molecular Biology

English

Mutational Spectrum in the PEX7 Gene and Functional Analysis of Mutant Alleles in 78 Patients With Rhizomelic Chondrodysplasia Punctata Type 1

American Journal of Human Genetics

English