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11Hans R Waterham
![]() Summary for 2004 [at-glance overview of Hans R Waterham work for the selected year as suggested by data mining algorithms]This is an Authoratory overview of author Hans R Waterham. According to available data, in 2004 Hans R Waterham published at least 11 articles. This work was completed in collaboration with several authors including Wanders, Ronald J A and Gootjes, Jeannette. Many other authors have collaborated with Hans R Waterham as well. There is no information about the funding or the grants awarded to support this work.
Hans R Waterham is a key opinion leader on Peroxisomes, Peroxisomal Disorders, Genetic Complementation Test. This author's highest rank is 2 when compared to all other authors using the keyword Peroxisomal Disorders. Analysis of the article abstracts and the titles suggests that Hans R Waterham professional interests are focused around "role peroxisomes isoprenoid", "mevalonate pyrophosphate decarboxylase" and "peroxisomes isoprenoid biosynthesis". These might also be referred to as "peroxisome biogenesis", "refsum disease" or "zinc-binding domain". Statistical analysis shows that Hans R Waterham's writing is likely to contains terms "patients", "mutations", "human", "peroxisomal", "disease" and "mutation".
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Alternative names (1) [other authors with names similar to Hans R Waterham]Year 2004 Charts [Hans R Waterham frequent coauthors and the most common unique vocabulary terms for the selected year]Historical Performance Charts [graphical overview of Hans R Waterham publication and funding history for the range of years]Emails (2) [email addresses extracted from Hans R Waterham affiliations]hidden to prevent spam, click here to reveal Hans R Waterham Coauthors (26) [all coauthors with the number of joint publications] Other [context-specific ads]Affiliations (10) [condensed summary of the Hans R Waterham affiliations, the leading number and the color conveys importance]- 2Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands.
1Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, PO Box 22700, 1100 DE, Amsterdam, The Netherlands. 1Emma Children's Hospital AMC, Amsterdam, The Netherlands. 1Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. 1Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. 1Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. 1Department of Clinical Chemistry, Academic Medical Center, Lab Genetic Metabolic Diseases, F0-224, Meibergdreef 9, Amsterdam 1105 AZ, Netherlands. 1Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 1Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. 1Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam.
Key Opinion Leader In [Hans R Waterham is considered a key opinion leader in any keyword where the rank of 5 is achieved, the leading number before the keyword shows the author's rank as compared to all other authors]- 2Peroxisomal Disorders | 4Genetic Complementation Test | 5Peroxisomes | 8Cytosol | 59Fibroblasts | 75Phenotype | 186Membrane Proteins | 207Kidney | 235Liver | 464Mutation | 788Base Sequence
Keywords (32) [keywords assigned to Hans R Waterham articles by PubMed, the leading number and the color conveys importance]- 10Humans | 4Cytosol | 4Peroxisomes | 4Peroxisomal Disorders | 4Membrane Proteins | 4Liver | 4Phenotype | 4Mutation | 4Fibroblasts | 3Base Sequence | 3Kidney | 3Genetic Complementation Test | 3Cells, Cultured | 2Adolescent | 2Fluorescent Antibody Technique | 2Cohort Studies | 2Child | 2DNA Primers | 2Child, Preschool | 2Adult | 2Female | 2Male | 2Homozygote | 2Subcellular Fractions | 2Cell Line | 1Receptors, Cytoplasmic and Nuclear | 1Consanguinity | 1Intracellular Membranes | 1Carboxy-Lyases | 1Developmental Disabilities | 1Adenosine Triphosphate | 1Genetic Variation
Hans R Waterham Unique Vocabulary (96) [single words, word pairs and phrases obtained by analysis of abstracts and titles, the leading number and the color conveys importance; Hans R Waterham might be a good expert witness on these terms]- 25patients | 18mutations | 18human | 15peroxisomal | 14disease | 13mutation | 13cells | 9peroxisomes | 8pex12 | 8kinase | 8isoprenoid | 8group | 8refsum | 8disorders | 8clinical | 8biosynthesis | 8domain | 7enzymes | 7role | 7cytosolic | 7novel | 7zinc-binding | 7found | 7results | 6humans | 6subcellular | 5implications | 5several | 5different | 5analysis | 5disorder | 5molecular
- 9peroxisome biogenesis | 8refsum disease | 7zinc-binding domain | 5isoprenoid biosynthesis | 5peroxisomes isoprenoid | 5role peroxisomes | 5phosphomevalonate kinase | 5human mevalonate | 5peroxisomal localization | 5pyrophosphate decarboxylase | 5mevalonate pyrophosphate | 4group disorders | 4kinase cytosolic | 4patients peroxisome | 4biogenesis disorder | 4pex12 gene | 4novel mutations | 4patients homozygous | 4central role | 4patients belonging | 4pbd patients | 4biogenesis disorders | 3clinical outcome | 3past decade | 3enzymes involved | 3several enzymes | 3different mutations | 3mutation analysis | 3domains zinc-binding | 3human phosphomevalonate | 3indication peroxisomal | 3primary hyperoxaluria
- 5role peroxisomes isoprenoid | 5mevalonate pyrophosphate decarboxylase | 4peroxisomes isoprenoid biosynthesis | 4patients peroxisome biogenesis | 4peroxisome biogenesis disorder | 4pbd patients belonging | 4human mevalonate pyrophosphate | 4peroxisome biogenesis disorders | 3conventional subcellular fractionation | 3mutations pex12 gene | 3human phosphomevalonate kinase | 3domains zinc-binding domain | 3molecular basis refsum | 3basis refsum disease | 3transmembrane domains zinc-binding | 3results support central | 3primary hyperoxaluria type | 3support central role | 3central role peroxisomes | 2disease sequence variations | 2due defects distinct | 2identification pbd patients | 2permeabilization studies immunofluorescence | 2different mutations reported | 2defects distinct genes | 2analysis primary hyperoxaluria | 2isoprenoid cholesterol biosynthetic | 2heterogeneous group disorders | 2clinical implications mutation | 2variations phytanoyl-coa hydroxylase | 2infantile refsum disease | 2syndrome zs neonatal
Reader's Comments (0) [comments posted by readers of Hans R Waterham profile]Funding (0) [selected NIH grants to Hans R Waterham and the award amounts for recent years]- award information is not available
Hans R Waterham Articles (11) [selected PubMed articles for the year 2004 with the links to a full text at PubMed]Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism. (2004) >> Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands. 1Von Schütz, M, 28Wanders, Ronald J A, 5Gootjes, Jeannette, 1Huemer, Martina, 1Smeitink, Jan A, 1Dekker, Conny, 5Mandel, Hanna, 11Topçu, Meral, 1Mooijer, Petra A W, 2Schmohl, Frank, 11Waterham, Hans R, 7Marquardt, Thorsten.The peroxisomal lumen in Saccharomyces cerevisiae is alkaline. (2004) >> Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, PO Box 22700, 1100 DE, Amsterdam, The Netherlands. 2van Marle, Jan, 3IJlst, Lodewijk, 28Wanders, Ronald J A, 2Dansen, Tobias B, 11Waterham, Hans R, 2van Roermund, Carlo W T, 1de Jong, Mark.Clinical implications of mutation analysis in primary hyperoxaluria type 1. (2004) >> Emma Children's Hospital AMC, Amsterdam, The Netherlands. 28Wanders, Ronald J A, 2Wijburg, Frits A, 3Groothoff, Jaap W, 1van Woerden, Christiaan S, 11Waterham, Hans R, 1Annink, Carla.Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. (2004) >> Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands. 1de Klerk, Johannis B C, 9Duran, Marinus, 28Wanders, Ronald J A, 1Wenniger-Prick, Liesbeth J Maillette de Buy, 5Gootjes, Jeannette, 5Barth, Peter G, 1Admiraal, Ronald J C, 4Poll-The, Bwee Tien, 11Waterham, Hans R.Phosphomevalonate kinase is a cytosolic protein in humans. (2004) >> Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. 28Wanders, Ronald J A, 3Koster, Janet, 3Hogenboom, Sietske, 3Espeel, Marc, 3Tuyp, John J M, 11Waterham, Hans R.Human mevalonate pyrophosphate decarboxylase is localized in the cytosol. (2004) >> Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands. 28Wanders, Ronald J A, 3Koster, Janet, 3Hogenboom, Sietske, 3Espeel, Marc, 3Tuyp, John J M, 11Waterham, Hans R.Functions and biosynthesis of plasmalogens in health and disease. (2004) >> Department of Clinical Chemistry, Academic Medical Center, Lab Genetic Metabolic Diseases, F0-224, Meibergdreef 9, Amsterdam 1105 AZ, Netherlands. 28Wanders, Ronald J A, 1Brites, Pedro, 11Waterham, Hans R.Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder. (2004) >> Lab. Genetic Metabolic Diseases (F0-224), Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 1Shimozawa, Noboyuki, 28Wanders, Ronald J A, 1Mitanchez, Delphine, 28Suzuki, Yasuyuki, 5Gootjes, Jeannette, 1Eyskens, François, 3Elpeleg, Orly, 5Mandel, Hanna, 11Waterham, Hans R.Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). (2004) >> Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. 28Wanders, Ronald J A, 2Jansen, Gerbert A, 11Waterham, Hans R.Mevalonate kinase is a cytosolic enzyme in humans. (2004) >> Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam. 28Wanders, Ronald J A, 3Koster, Janet, 3Hogenboom, Sietske, 3Espeel, Marc, 3Tuyp, John J M, 11Waterham, Hans R.Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder. (2004) >> Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands. 28Wanders, Ronald J A, 5Gootjes, Jeannette, 2Schmohl, Frank, 11Waterham, Hans R.
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