MARC details
| 000 -LEADER |
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| fixed length control field |
06295nam a22005655i 4500 |
| 003 - CONTROL NUMBER IDENTIFIER |
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| control field |
TR-AnTOB |
| 005 - DATE AND TIME OF LATEST TRANSACTION |
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| control field |
20231109085905.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION |
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| fixed length control field |
cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
220203s2022 sz | s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
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| International Standard Book Number |
9783030878931 |
| 024 7# - OTHER STANDARD IDENTIFIER |
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| Standard number or code |
10.1007/978-3-030-87893-1 |
| Source of number or code |
doi |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
TR-AnTOB |
| Language of cataloging |
eng |
| Description conventions |
rda |
| Transcribing agency |
TR-AnTOB |
| 060 ## - NATIONAL LIBRARY OF MEDICINE CALL NUMBER |
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| Classification number |
WL 140 |
| 072 #7 - SUBJECT CATEGORY CODE |
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| Subject category code |
MJN |
| Source |
bicssc |
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| Subject category code |
MED056000 |
| Source |
bisacsh |
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| Subject category code |
MKJ |
| Source |
thema |
| 096 ## - LOCALLY ASSIGNED NLM-TYPE CALL NUMBER (OCLC) |
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| Classification number |
WL140EBK |
| 041 ## - LANGUAGE CODE |
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| Language code of text/sound track or separate title |
İngilizce |
| 245 10 - TITLE STATEMENT |
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| Title |
Neurocutaneous Disorders |
| Medium |
[electronic resource] : |
| Remainder of title |
A Clinical, Diagnostic and Therapeutic Approach / |
| Statement of responsibility, etc. |
edited by Christos P. Panteliadis, Ramsis Benjamin, Christian Hagel. |
| 250 ## - EDITION STATEMENT |
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| Edition statement |
3rd ed. 2022. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE |
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| Place of production, publication, distribution, manufacture |
Cham : |
| Name of producer, publisher, distributor, manufacturer |
Springer International Publishing : |
| -- |
Imprint: Springer, |
| Date of production, publication, distribution, manufacture, or copyright notice |
2022. |
| 300 ## - PHYSICAL DESCRIPTION |
|---|
| Extent |
1 online resource |
| 336 ## - CONTENT TYPE |
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| Content type term |
text |
| Content type code |
txt |
| Source |
rdacontent |
| 337 ## - MEDIA TYPE |
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| Media type term |
computer |
| Media type code |
c |
| Source |
rdamedia |
| 338 ## - CARRIER TYPE |
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| Carrier type term |
online resource |
| Carrier type code |
cr |
| Source |
rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS |
|---|
| File type |
text file |
| Encoding format |
PDF |
| Source |
rda |
| 505 0# - FORMATTED CONTENTS NOTE |
|---|
| Formatted contents note |
Preface -- Introduction -- Part I: Aetiology and diagnostics of neurocutaneous disorders -- 1. Genetics of neurocutaneous syndromes -- 2. Superimposed mosaicism in neurocutaneous disorders -- 3. Neuro-Imaging in Neurocutaneous Disorders -- 4. Neuropathology of neurocutaneous disorders -- Part II: Developmental malformations -- 5. Sturge-Weber syndrome -- 6. Ataxia-Telangiectasia (Louis-Bar syndrome) -- 7. Hypomelanosis of Ito (Incontinentia pigmenti achromians) -- 8. Incontinentia pigmenti (Bloch-Sulzberger syndrome) -- 9. Klippel-Trenaunay syndrome (Klippel-Trenaunay-Weber syndrome) -- 10. Epidermal naevus syndrome and Linear naevus sebaceous syndrome -- 11. Neurocutaneous melanosis -- 12. Hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome -- 13. Cowden disease and Lhermitte-Duclos disease -- 14. Cutaneomeningospinal angiomatosis (Cobb syndrome) -- 15. Cutis marmorata telangiectatica congenita (Van Lohuizen's syndrome) -- 16. Encephalocraniocutaneous lipomatosis (Haberland syndrome) -- 17. LEOPARD syndrome (multiple lentigines; Lentiginosis profusa) -- 18. MIDAS syndrome (Microphthalmia with linear skin defects) -- 19. Oculocerebrocutaneous syndrome (Delleman syndrome) -- 20. Oro-facio-digital syndrome -- 21. PHACE syndrome -- 22. Proteus syndrome -- 23. Wyburn-Manson syndrome -- 24. Cerebello-trigemino-dermal (Gómez-López-Hernández syndrome) -- 25. Vascular tumours (haemangiomas) -- Part III: Tumour suppressor/DNA-repair disorders -- 26 -- Neurofibromatosis 1 and 2 -- 27. Tuberous sclerosis (Bourneville disease) -- 28. Angiomatosis of the Retina and the Cerebellum (von Hippel-Lindau disease) -- 29. Naevoid basal cell carcinoma (GORLIN-GOLTZ syndrome) -- 30. Cockayne syndrome -- 31. Xeroderma pigmentosum (Kaposi dermatosis) -- Part IV: Defects of enzymes and structural proteins -- 32. Cerebrotendinous xanthromatosis -- 33. Chédiak-Higashi syndrome -- 34. CHILD syndrome -- 35. Dorfman – Chanarin syndrome -- 36. Ehlers-Danlos syndrome -- 37. Ichthyoses – Trichothiodystrophy – TAY syndrome -- 38. Rud syndrome -- 39. HID/KID syndrome -- 40. Hutchinson-Gilford progeria syndrome -- 41. Lipoid Proteinosis (Urbach-Wiethe syndrome) -- 42. McCune-Albright disease -- 43. Menkes syndrome (Kinky hair disease; Tricholiodystrophy -- 44. Refsum disease (Heredopathis atactica polyneuritiformis -- 45. Sjögren-Larsson syndrome -- 46. Fabry disease -- Part V: Specific aspects in the management of neurocutaneous disorders -- 47. Ocular manifestations of neurocutaneous syndromes -- 48. Neurosurgical management of neurocutaneous disorders -- 49. Neurosurgery in infant's with TBC -- 50. Managing Epilepsy in Neurocutaneous Disorders -- 51. Orthopedic problems and therapy in neurocutaneous disorders -- 52. Improving quality of life in neurocutaneous disorders. |
| 520 ## - SUMMARY, ETC. |
|---|
| Summary, etc. |
This book provides extensive data on the more common and many of the more rare congenital and hereditary syndromes that manifest in the nervous system and skin. Though often complex and multi-systemic, these disorders can frequently be diagnosed using a combination of simple visual inspection and sound clinical expertise. Drawing on fully referenced information from thousands of articles, the international editorial team has prepared a comprehensive overview that includes historical perspectives, clinical features, the pathogenesis, and diagnostic and therapeutic strategies. In addition, it addresses the biochemical, molecular, and genetic basis of the disorders. The book is divided into four main sections. Starting with general aspects of aetiology, diagnostics and therapy, the first part then covers the genetics, neuro-imaging, neuropathology, ocular manifestations and surgical management. The second part discusses developmental malformations, such as Sturge-Weber syndrome, Ataxia-Telangiectasia, Hypomelanosis of Ito and other rare syndromes, including haemangiomas. The focus of the third part is on tumour suppressor/DNA repair disorders, the most common of which is Neurofibromatosis 1. It also describes Neurofibromatosis 2, Schwannomatosis, Tuberous sclerosis, von Hippel-Lindau disease, Naevoid basal cell carcinoma and others. The book’s fourth and final section covers defects in enzymes and structural proteins, which manifest as Cerebrotendinous xanthromatosis, Ehlers-Danlos syndrome, Menkes syndrome, Refsum disease. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM |
|---|
| Topical term or geographic name entry element |
Neurology . |
|
|---|
| Topical term or geographic name entry element |
Pediatrics. |
|
|---|
| Topical term or geographic name entry element |
Ophthalmology. |
|
|---|
| Topical term or geographic name entry element |
Dermatology. |
|
|---|
| Topical term or geographic name entry element |
Radiology. |
|
|---|
| Topical term or geographic name entry element |
Neurology. |
|
|---|
| Topical term or geographic name entry element |
Pediatrics. |
|
|---|
| Topical term or geographic name entry element |
Ophthalmology. |
|
|---|
| Topical term or geographic name entry element |
Dermatology. |
|
|---|
| Topical term or geographic name entry element |
Radiology. |
| 653 #0 - INDEX TERM--UNCONTROLLED |
|---|
| Uncontrolled term |
Neurocutaneous Syndromes |
| 700 1# - ADDED ENTRY--PERSONAL NAME |
|---|
| Personal name |
Panteliadis, Christos P. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
|
|---|
| Personal name |
Benjamin, Ramsis. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
|
|---|
| Personal name |
Hagel, Christian. |
| Relator term |
editor. |
| Relator code |
edt |
| -- |
http://id.loc.gov/vocabulary/relators/edt |
| 710 2# - ADDED ENTRY--CORPORATE NAME |
|---|
| Corporate name or jurisdiction name as entry element |
SpringerLink (Online service) |
| 856 40 - ELECTRONIC LOCATION AND ACCESS |
|---|
| Uniform Resource Identifier |
<a href="https://doi.org/10.1007/978-3-030-87893-1">https://doi.org/10.1007/978-3-030-87893-1</a> |
| Materials specified |
Springer eBooks |
| Public note |
Online access link to the resource |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
|---|
| Source of classification or shelving scheme |
National Library of Medicine |
| Koha item type |
E-Book |
