A new type of chondrodysplasia punctata associated with peroxisomal dysfunction
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The most severe form of RCDP leads to lethality within the first years of life, often due to respiratory failure.
“The most severe form of the disease leads to lethality within the first years of life, often due to respiratory failure.”
From Peroxisomes in brain development and function (2016) · cites this paper as [194]
Cites
Activity of peroxisomal enzymes and intracellular distribution of catalase in Zellweger syndrome
Wanders, R. J. A., Kos, M., Roest, B. C., Meijer, A. J., Schrakamp, G., Heymans, H. S. A., Tegelaers, W. H. H., van den BOSCH, H., Schutgens, R. B. H., & Tager, J. M. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/s0006-291x(84)80240-5 · Cited by 199 · see citing works
Self-citationSchutgens, R. B. H., Romeyn, G. J., Wanders, R. J. A., van den BOSCH, H., Schrakamp, G., & Heymans, H. S. A. (1984) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(84)91430-x · Cited by 192 · see citing works
Self-citationRhizomelic Chondrodysplasia Punctata: Another Peroxisomal Disorder
Ziv, Y., Rubin, M., Lombrozo, R., Rapoport, D., & Dintsman, M. (1985) · New England Journal of Medicine · doi:10.1056/nejm198507183130322 · Cited by 161 · see citing works
Biochemical abnormalities in rhizomelic chondrodysplasia punctata
Hoefler, G., Hoefler, S., Watkins, P. A., Chen, W. W., Moser, A., Baldwin, V., McGillivary, B., Charrow, J., Friedman, J. M., Rutledge, L., et al. (1988) · The Journal of Pediatrics · doi:10.1016/s0022-3476(88)80689-9 · Cited by 133 · see citing works
Peroxisomal β-oxidation enzyme proteins in the Zellweger syndrome
Tager, J. M., Beek, W. A. T. H. V. D., Wanders, R. J. A., Hashimoto, T., Heymans, H. S. A., van den BOSCH, H., Schutgens, R. B. H., & Schram, A. W. (1985) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(85)90322-5 · Cited by 128 · see citing works
Self-citationPeroxisomal abnormalities in rhizomelic chondrodysplasia punctata
Heymans, H. S. A., Oorthuys, J. W. E., Gf, N., Wanders, R. J. A., Dingemans, K. P., & Schutgens, R. B. H. (1986) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799743 · Cited by 62 · see citing works
Self-citationPeroxisomal Abnormalities in Rhizomelic Chondrodysplasia Punctata
Heymans, H. S. A., Oorthuys, J. W. E., Gf, N., Wanders, R. J. A., Dingemans, K. P., & Schutgens, R. B. H. (1986) · Springer eBooks · doi:10.1007/978-94-009-4131-1_62 · Cited by 54 · see citing works
Self-citationPeroxisomal Enzyme Deficiency in the Conradi–Hunerman Form of Chondrodysplasia Punctata
Holmes, R., Wilson, G. N., & Hajra, A. K. (1987) · New England Journal of Medicine · doi:10.1056/nejm198706183162517 · Cited by 41 · see citing works
Phytanic acid oxidase activity in cultured skin fibroblasts. Diagnostic usefulness and limitations
Skjeldal, O. H., Stokke, O., Norseth, J., et al. (1986) · Scandinavian Journal of Clinical and Laboratory Investigation · doi:10.3109/00365518609083671 · Cited by 24 · see citing works
Peroxisomal Enzyme Deficiency in X‐linked Dominant Conradi—Hünermann Syndrome
Clayton, P. T., Kalter, D. C., Atherton, D. J., et al. (1989) · Journal of Inherited Metabolic Disease · doi:10.1007/bf03335422 · Cited by 21 · see citing works
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Peroxisomes in brain development and function
Berger, J., Dorninger, F., Forss-Petter, S., & Kunze, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2015.12.005 · Cited by 194 · see citing works
Identification of PEX7 as the second gene involved in Refsum disease
van den Brink, D. M., Brites, P., Haasjes, J., Wierzbicki, A. S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G. A., Waterham, H. R., & Ronald Wanders, J. A. (2003) · The American Journal of Human Genetics · doi:10.1086/346093 · Cited by 171 · see citing works
Braverman, N., Chen, L., Lin, P., Obie, C., Steel, G., Douglas, P., Chakraborty, P. K., Clarke, J. T. R., Boneh, A., Moser, A., et al. (2002) · Human Mutation · doi:10.1002/humu.10124 · Cited by 134 · see citing works
Motley, A. M., Brites, P., Gerez, L., Hogenhout, E., Haasjes, J., Benne, R., Tabak, H. F., Wanders, R. J. A., & Waterham, H. R. (2002) · The American Journal of Human Genetics · doi:10.1086/338998 · Cited by 107 · see citing works
Self-citationChondrodysplasia punctata with a mild clinical course
Nuoffer, J. M., Pfammatter, J. P., Spahr, A., Toplak, H., Wanders, R. J. A., Schutgens, R. B. H., & Wiesmann, U. N. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00735395 · Cited by 20 · see citing works
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- Authors
- Poll‐The, B. T., Maroteaux, P., Narcy, C., Quetin, P., Guesnu, M., Wanders, R. J. A., Schutgens, R. B. H., & Saudubray, J. M.
- Affiliations
- Inserm (FR)
- Centre Hospitalier de Gonesse Gonesse 95500 France
- Centre Hospitalier de Gonesse (FR)
- Amsterdam University Medical Centers (NL)
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1991-05
- Volume
- 14
- Issue
- 3
- Pages
- 361-363
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W2067047063
- Cited by
- 32
- References
- 10
- Citations by year
- 2020: 1 · 2015: 1 · 2014: 1 · 2012: 1
- FWCI
- 2.25
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
- Keywords
- chondrodysplasia punctata, peroxisomal dysfunction, peroxisomal disorders, skeletal dysplasia, inborn errors of metabolism
- MeSH terms
- Acyltransferases, Catalase, Chondrodysplasia Punctata, Female, Fibroblasts, Humans, Infant, Infant, Newborn, Microbodies, Oxidation-Reduction, Phytanic Acid, Skin
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