Neurocutaneous disorders / (Record no. 521042)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 04565nam a22003738i 4500 |
| 001 - CONTROL NUMBER | |
| control field | CR9780511545054 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | UkCbUP |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20200124160310.0 |
| 006 - FIXED-LENGTH DATA ELEMENTS--ADDITIONAL MATERIAL CHARACTERISTICS--GENERAL INFORMATION | |
| fixed length control field | m|||||o||d|||||||| |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr|||||||||||| |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 090507s2004||||enk o ||1 0|eng|d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9780511545054 (ebook) |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| Cancelled/invalid ISBN | 9780521781534 (hardback) |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | UkCbUP |
| Language of cataloging | eng |
| Description conventions | rda |
| Transcribing agency | UkCbUP |
| 050 00 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RL701 |
| Item number | .N483 2004 |
| 082 00 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 616.8 |
| Edition number | 22 |
| 245 00 - TITLE STATEMENT | |
| Title | Neurocutaneous disorders / |
| Statement of responsibility, etc | edited by E. Steve Roach and Van S. Miller. |
| 264 #1 - Production, Publication, Distribution, Manufacture, and Copyright Notice (R) | |
| Place of production, publication, distribution, manufacture (R) | Cambridge : |
| Name of producer, publisher, distributor, manufacturer (R) | Cambridge University Press, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2004. |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1 online resource (xvii, 338 pages) : |
| Other physical details | digital, PDF file(s). |
| 336 ## - Content Type (R) | |
| Content type term (R) | text |
| Content type code (R) | txt |
| Source (NR) | rdacontent |
| 337 ## - Media Type (R) | |
| Media type term (R) | computer |
| Media type code (R) | c |
| Source (NR) | rdamedia |
| 338 ## - Carrier Type (R) | |
| Carrier type term (R) | online resource |
| Carrier type code (R) | cr |
| Source (NR) | rdacarrier |
| 500 ## - GENERAL NOTE | |
| General note | Title from publisher's bibliographic system (viewed on 05 Oct 2015). |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Introduction / E. Steve Roach -- Genetics of neurocutaneous disorders / Kit-Sing Au and Hope Northrup -- Clinical recognition / Golder N. Wilson -- Neurofibromatosis type 1 / Joshua Goldstein and David H. Gutmann -- Neurofibromatosis type 2 / D. Gareth R. Evans -- Tuberous sclerosis complex / E. Steve Roach -- von Hippel-Lindau disease / Noel Baker and James A. Armstrong -- Neurocutaneous melanosis / Van S. Miller -- Nevoid basal cell carcinoma (Gorlin) syndrome / Robert J. Gorlin -- Epidermal nevus syndromes / Jeffrey L. Sugarman and Ilona J. Frieden -- Multiple endocrine neoplasia type 2 / Jeffrey B. Boord and Lewis S. Blevins -- Ataxia-telangiectasia / Van S. Miller -- Incontinentia pegment / Van S. Miller -- Hypomelanosis of Ito / Ignacio Pascuel-Castroviejo. |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy / Pedro Mancias and Ian J. Butler -- Cerebrotendinous xanthomatosis / Aad Verrips, Johannes R.M. Cruysberg and Ron A. Wevers -- Adrenoleukodystrophy / Hugo W. Moser and Bjorn M. van Geel -- Peroxisomal disorders / Jeffrey Kane and E. Steve Roach -- Familial dysautonomia / Felicia B. Axelrod -- Fabry disease / E. Steve Roach -- Giant axonal neuropathy / Robert Chudnow -- Chediak-Higashi syndrome / Roula A. Farah and Zora R. Rogers -- Encephalocraniocutaneous lipomatosis / Marvin A. Fishman -- Cerebello-trigemino-dermal dysplasia / Maria Verónica Muñoz Rojas, António Carlos dos Santos and João Monteiro de Pina Neto -- Coffin-Siris syndrome: clinical delineation; differential diagnosis and long-term evolution / Jean-Pierre Fryns -- Lipoid proteinosis / Donna E. Newsome -- Macrodactyly-nerve fibrolipoma / E. Steve Roach. |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | Cowden disease / G.W. Padberg -- Pseudoxanthoma elasticum / Kenneth H. Neldner and E. Steve Roach -- Ehlers-Danlos syndromes / E. Steve Roach and Carol Zimmerman -- Hutchinson-Gilford progeria syndrome / E. Steve Roach -- Blue rubber bleb nevus syndrome / John M. Anderson -- Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu) / Michael Morgan Dowling -- Hereditary neurocutaneous angiomatosis / Richard LeBlanc -- Cutaneous hemangiomas: vascular anomaly complex / Ignacio Pascual-Castroviejo -- Sturge-Weber syndrome / Anthony R. Riela and E. Steve Roach -- Lesch-Nyhan syndrome / William L. Nyhan -- Multiple carboxylase deficiency / Gerald M. So -- Homocystinuria due to cystathionine [beta]-synthase (CBS) deficiency / Raffaella de Franchis, Ennio del Giudice and Generoso Andria -- Fucosidosis / Michel Philippart -- Menkes disease / Zeynep Tümer and Nina Horn. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc | The neurocutaneous disorders comprise a large group of neurological syndromes that feature skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, psychiatric symptoms, or seizures. Neurocutaneous syndromes have been known for centuries, but recent research into their cellular, biochemical and molecular-genetic basis has pointed to an essential need for a genotypic nosology. In this book, a distinguished team of editors and authors provides an authoritative, illustrated, up-to-the-minute review of the current understanding of phenotype-genotype relationships in these disorders, as well as their recognition, investigation and treatment. It will be essential reading for all neurologists as well as dermatologists, geneticists and pediatricians. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Neurocutaneous disorders. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name as entry element | Skin |
| General subdivision | Diseases. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Roach, E. S. |
| Fuller form of name | (Ewell Steve), |
| Relator term | editor. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miller, Van S., |
| Relator term | editor. |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Display text | Print version: |
| International Standard Book Number | 9780521781534 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1017/CBO9780511545054">https://doi.org/10.1017/CBO9780511545054</a> |
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