HR Waterham
HR Waterham
Professor Functional Genetics of Metabolic Diseases at University of Amsterdam
Verified email at
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Biochemistry of mammalian peroxisomes revisited
RJA Wanders, HR Waterham
Annu. Rev. Biochem. 75, 295-332, 2006
A lethal defect of mitochondrial and peroxisomal fission
HR Waterham, J Koster, CWT van Roermund, PAW Mooyer, ...
New England Journal of Medicine 356 (17), 1736-1741, 2007
Isolation of the Pichia pastoris glyceraldehyde-3-phosphate dehydrogenase gene and regulation and use of its promoter
HR Waterham, ME Digan, PJ Koutz, SV Lair, JM Cregg
Gene 186 (1), 37-44, 1997
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
SM Houten, W Kuis, M Duran, TJ De Koning, A van Royen-Kerkhof, ...
Nature genetics 22 (2), 175-177, 1999
Functions and biosynthesis of plasmalogens in health and disease
P Brites, HR Waterham, RJA Wanders
Biochimica et Biophysica Acta (BBA)-Molecular and Cell Biology of Lipids …, 2004
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+ 1G> A …
ABP van Kuilenburg, EW Muller, J Haasjes, R Meinsma, L Zoetekouw, ...
Clinical cancer research 7 (5), 1149-1153, 2001
Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
HR Waterham, J Koster, GJ Romeijn, RCM Hennekam, P Vreken, ...
The American Journal of Human Genetics 69 (4), 685-694, 2001
Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
RJA Wanders, P Vreken, S Ferdinandusse, GA Jansen, HR Waterham, ...
Biochemical Society Transactions 29 (2), 250-267, 2001
ABCD1 mutations and the X‐linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
S Kemp, A Pujol, HR Waterham, BM Van Geel, CD Boehm, GV Raymond, ...
Human mutation 18 (6), 499-515, 2001
Infevers: an evolving mutation database for auto‐inflammatory syndromes
I Touitou, S Lesage, M McDermott, L Cuisset, H Hoffman, C Dode, ...
Human mutation 24 (3), 194-198, 2004
Peroxisomal disorders: the single peroxisomal enzyme deficiencies
RJA Wanders, HR Waterham
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
S Ferdinandusse, S Denis, PT Clayton, A Graham, JE Rees, JT Allen, ...
Nature genetics 24 (2), 188-191, 2000
Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
HR Waterham, FA Wijburg, RCM Hennekam, P Vreken, BT Poll-The, ...
The American Journal of Human Genetics 63 (2), 329-338, 1998
The infevers autoinflammatory mutation online registry: update with new genes and functions
F Milhavet, L Cuisset, HM Hoffman, R Slim, H El‐Shanti, I Aksentijevich, ...
Human mutation 29 (6), 803-808, 2008
Subcellular localization and physiological role of α-methylacyl-CoA racemase
S Ferdinandusse, S Denis, L IJlst, G Dacremont, HR Waterham, ...
Journal of lipid research 41 (11), 1890-1896, 2000
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
RJA Wanders, HR Waterham
Clinical genetics 67 (2), 107-133, 2005
Genetics and molecular basis of human peroxisome biogenesis disorders
HR Waterham, MS Ebberink
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (9 …, 2012
The Hansenula polymorpha PER1 gene is essential for peroxisome biogenesis and encodes a peroxisomal matrix protein with both carboxy-and amino-terminal targeting signals.
HR Waterham, VI Titorenko, P Haima, JM Cregg, W Harder, M Veenhuis
The Journal of cell biology 127 (3), 737-749, 1994
Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3β-hydroxysterol Δ14-reductase deficiency due to mutations in the lamin B receptor gene
HR Waterham, J Koster, P Mooyer, G Van Noort, RI Kelley, WR Wilcox, ...
The American Journal of Human Genetics 72 (4), 1013-1017, 2003
Human disorders of peroxisome metabolism and biogenesis
HR Waterham, S Ferdinandusse, RJA Wanders
Biochimica Et Biophysica Acta (BBA)-Molecular Cell Research 1863 (5), 922-933, 2016
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