HR Waterham
HR Waterham
Professor Functional Genetics of Metabolic Diseases at University of Amsterdam
Verified email at amc.uva.nl
Title
Cited by
Cited by
Year
Biochemistry of mammalian peroxisomes revisited
RJA Wanders, HR Waterham
Annu. Rev. Biochem. 75, 295-332, 2006
9072006
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
7152007
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
6021997
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
4921999
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
3872004
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
3322001
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
3302001
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
3152001
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
2942001
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
2892004
Peroxisomal disorders: the single peroxisomal enzyme deficiencies
RJA Wanders, HR Waterham
Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1763 (12), 1707-1720, 2006
2882006
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
2872000
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
282*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
2442008
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
2392000
Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
RJA Wanders, HR Waterham
Clinical genetics 67 (2), 107-133, 2005
2332005
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
2322012
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
2281994
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
2242003
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
2132016
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