Waterham, Hans R.

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 65

The neurology of rhizomelic chondrodysplasia punctata

Bams-Mengerink, A. M., Koelman, J. H., Waterham, H., Barth, P. G., & Poll-The, B. T. (2013) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 59

Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics

Herzog, K., Pras‐Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., & Vaz, F. M. (2018) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 57

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival

Barth, P. G., Majoie, C. B. L. M., Gootjes, J., Wanders, R. J. A., Waterham, H. R., van der Knaap, M. S., de Klerk, J. B. C., Smeitink, J., & Poll-The, B. T. (2004) · Neurology

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 43

Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis

Coman, D., Vissers, L. E. L. M., Riley, L. G., Kwint, M. P., Hauck, R., Koster, J., Geuer, S., Hopkins, S., Hallinan, B., Sweetman, L., et al. (2018) · The American Journal of Human Genetics

Cholesterol and Lipid MetabolismMetabolism and Genetic Disorders

Cited by 42

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39

Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.

Darwisch, W., von Spangenberg, M., Lehmann, J., Singin, Ö., Deubert, G., Kühl, S., Roos, J., Horstmann, H., Körber, C., Hoppe, S., et al. (2020) · Communications Biology

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 32

Peroxisomes and their central role in metabolic interaction networks in humans.

Wanders, R. J. A., Waterham, H. R., & Ferdinandusse, S. (2018) · Subcellular Biochemistry

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 31

Differential roles for ACBD4 and ACBD5 in peroxisome-ER interactions and lipid metabolism.

Costello, J. L., Koster, J., Silva, B. S. C., Worthy, H. L., Schrader, T. A., Hacker, C., Passmore, J., Kuypers, F. A., Waterham, H. R., & Schrader, M. (2023) · Journal of Biological Chemistry

Lipid metabolism and biosynthesisCellular transport and secretion

Cited by 18

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

Engelen, M., van der Kooi, A. J., Kemp, S., Wanders, R. J. A., Sistermans, E. A., Waterham, H. R., Koelman, J. T. M., van Geel, B. M., & de Visser, M. (2011) · Journal of the Peripheral Nervous System

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 12

Ether lipid transfer across the blood-brain and placental barriers does not improve by inactivation of the most abundant ABC transporters.

Dorninger, F., Vaz, F. M., Waterham, H. R., Klinken, J. B. V., Zeitler, G., Forss-Petter, S., Berger, J., & Wiesinger, C. (2022) · Brain Research Bulletin

Drug Transport and Resistance MechanismsBarrier Structure and Function Studies

Cited by 12