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The Metabolic Basis of Inherited Diseases
Abstract
Some books belong in every medical library. Volumes such as Christopher'sSurgery; Allen, Barker, and Hines'Peripheral Vascular Disease; and Goodman and Gilman'sPharmacologyare examples. The current book under review is another to add. This edition has been completely rewritten by knowledgeable authors who write clearly and in concise detail about each subject. The historical description of cases is included. The pertinent clinical information is summarized, the metabolic and biochemical pathways are illustrated, genetic variations are discussed, and the literature summarized so that each chapter is a delight to read. The volume begins with an introduction to molecular genetics and proceeds to establish the utility of the approach to clinical medicine. The chapters on albinism by Fitzpatrick and Quevedo and on porphyria by Rudi Schmid are good. The Dorfman chapter on mucopolysaccharidoses, the Fredrickson chapters on lipoprotein and lipid disease, and the chapter on Refsum's syndrome are examples of
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Cited by
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Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature · doi:10.1038/361726a0 · Cited by 1,202
Hyperinsulinaemia: the key feature of a cardiovascular and metabolic syndrome
Ferrannini, E., Haffner, S. M., Mitchell, B. D., & Stern, M. P. (1991) · Diabetologia · doi:10.1007/bf00403180 · Cited by 898
Neurosteroids: biosynthesis and function of these novel neuromodulators
Compagnone, N. A., & Mellon, S. H. (2000) · Frontiers in Neuroendocrinology · doi:10.1006/frne.1999.0188 · Cited by 820
Role of apoCs in lipoprotein metabolism: functional differences between apoC1, apoC2, and apoC3
Jong, M. C., Hofker, M. H., & Havekes, L. M. (1999) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/01.atv.19.3.472 · Cited by 539
Lu, S. C., Alvarez, L., Huang, Z.-Z., Chen, L., An, W., Corrales, F. J., Avila, M. A., Kanel, G., & Mato, J. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.091016398 · Cited by 449
Metadata
- Authors
- Winkelmann, R. K.
- Venue
- Archives of Dermatology
- Publisher
- American Medical Association (AMA)
- Published
- 1972-08-01
- Volume
- 106
- Issue
- 2
- Pages
- 268
- ISSN
- 0003-987X (ISSN-L)
- OpenAlex
- W2092716180
- Cited by
- 1,769
- References
- 0
- FWCI
- 23.04
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: The Metabolic Basis of Inherited Diseases. https://app.cochat.ai/papers/10.1001/archderm.1972.01620110090032
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- Winkelmann, R. K. (1972). The Metabolic Basis of Inherited Diseases. Archives of Dermatology. https://doi.org/10.1001/archderm.1972.01620110090032
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
