The DOI matches its Crossref record; 23 of the 23 references it cites were found in a registry or an index.
The Cerebrohepatorenal (Zellweger) Syndrome: Increased Levels and Impaired Degradation of Very-Long-Chain Fatty Acids and Their Use in Prenatal Diagnosis
Abstract
The cerebrohepatorenal (Zellweger) syndrome is a fatal autosomal recessive disorder manifested in the neonatal period by profound hypotonia, psychomotor retardation, dysmorphic features, and an enlarged liver. In this study we demonstrate fivefold or greater increases of very-long-chain fatty acid levels, particularly hexacosanoic acid (C26:0) and hexacosenoic acid (C26:1), in plasma and cultured skin fibroblasts from 20 patients. Similar findings in cultured amniocytes from 3 of 14 women in whom the fetus was at risk of the Zellweger syndrome permitted prenatal diagnosis. Oxidation of very-long-chain fatty acids, which normally takes place in the peroxisome, was impaired in homogenates of cultured skin fibroblasts and amniocytes. This observation extends the evidence that the Zellweger syndrome belongs to the newly formulated category of peroxisomal disorders. The pattern of excess very-long-chain fatty acids differs from that demonstrated previously in patients with childhood adrenoleukodystrophy. The study of very-long-chain fatty acids provides a convenient method for the early diagnosis and prenatal detection of the Zellweger syndrome.
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Citations
Cites
Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome
Goldfischer, S., Moore, C. L., Johnson, A. B., Spiro, A. J., Valsamis, M. P., Wisniewski, H. K., Ritch, R. H., Norton, W. T., Rapin, I., & Gartner, L. M. (1973) · Science · doi:10.1126/science.182.4107.62 · Cited by 791
Metabolic Pathways in Peroxisomes and Glyoxysomes
Tolbert, N. E. (1981) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.50.070181.001025 · Cited by 550
Adrenoleukodystrophy: A Clinical and Pathological Study of 17 Cases
Schaumburg, H. H. (1975) · Archives of Neurology · doi:10.1001/archneur.1975.00490510033001 · Cited by 475
Moser, H. (1981) · doi:10.1212/wnl.31.10.1241 · Cited by 396
Self-citationSevere plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
Heymans, H. S. A., Schutgens, R. B. H., Tan, R., van den Bosch, H., & Borst, P. (1983) · Nature · doi:10.1038/306069a0 · Cited by 348
Migeon, B. R., Moser, H. W., Moser, A. B., Axelman, J., Sillence, D., & Norum, R. A. (1981) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.78.8.5066 · Cited by 282
Self-citationCerebro-hepato-renal syndrome of Zellweger
Danks, D. M., Tippett, P., Adams, C., & Campbell, P. (1975) · The Journal of Pediatrics · doi:10.1016/s0022-3476(75)80967-x · Cited by 245
Singh, I., Moser, A. E., Moser, H. W., & Kishimoto, Y. (1984) · Pediatric Research · doi:10.1203/00006450-198403000-00016 · Cited by 234
Self-citationGRIFFIN, J. W., GOREN, E., SCHAUMBURG, H., ENGEL, W. K., & LORIAUX, L. (1977) · Neurology · doi:10.1212/wnl.27.12.1107 · Cited by 232
Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration
Volpe, J. J., & Adams, R. D. (1972) · Acta Neuropathologica · doi:10.1007/bf00686900 · Cited by 225
Cited by
Peroxisome biogenesis disorders
Steinberg, S. J., Dodt, G., Raymond, G. V., Braverman, N. E., Moser, A. B., & Moser, H. W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.09.010 · Cited by 522
Self-citationBraverman, N. E., Raymond, G. V., Rizzo, W. B., Moser, A. B., Wilkinson, M. E., Stone, E. M., Steinberg, S. J., Wangler, M. F., Rush, E. T., Hacia, J. G., et al. (2016) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2015.12.009 · Cited by 281
Self-citationFan, C.-Y., Pan, J., Chu, R., Lee, D., Kluckman, K. D., Usuda, N., Singh, I., Yeldandi, A. V., Rao, M. S., Maeda, N., et al. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.40.24698 · Cited by 268
Self-citationAdrenoleukodystrophy: Survey of 303 cases: Biochemistry, diagnosis, and therapy
Moser, H. W., Moser, A. E., Singh, I., & O'Neill, P. (1984) · Annals of Neurology · doi:10.1002/ana.410160603 · Cited by 259
Self-citationKelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230404 · Cited by 219
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Metadata
- Authors
- Moser, A. E., Singh, I., Brown, F. R., Solish, G. I., Kelley, R. I., Benke, P. J., & Moser, H. W.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1984-05-03
- Volume
- 310
- Issue
- 18
- Pages
- 1141-1146
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W1984739246
- Cited by
- 271
- References
- 23
- FWCI
- 29.55
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: The Cerebrohepatorenal (Zellweger) Syndrome: Increased Levels and Impaired Degradation of Very-Long-Chain Fatty Acids and Their Use in Prenatal Diagnosis. https://app.cochat.ai/papers/10.1056/nejm198405033101802
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- Moser, A. E., Singh, I., Brown, F. R., Solish, G. I., Kelley, R. I., Benke, P. J., & Moser, H. W. (1984). The Cerebrohepatorenal (Zellweger) Syndrome: Increased Levels and Impaired Degradation of Very-Long-Chain Fatty Acids and Their Use in Prenatal Diagnosis. New England Journal of Medicine. https://doi.org/10.1056/nejm198405033101802
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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