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catalog abstract "The neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders.".
catalog contributor b13196410.
catalog contributor b13196411.
catalog created "2004.".
catalog date "2004".
catalog date "2004.".
catalog dateCopyrighted "2004.".
catalog description "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.".
catalog description "Includes bibliographical references and index.".
catalog description "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.".
catalog description "The neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders.".
catalog description "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.".
catalog extent "xvii, 338 p. :".
catalog identifier "0521781531 (hardback)".
catalog issued "2004".
catalog issued "2004.".
catalog language "eng".
catalog publisher "Cambridge ; New York : Cambridge University Press,".
catalog subject "2004 B-327".
catalog subject "616.856 21".
catalog subject "Neurocutaneous Syndromes diagnosis.".
catalog subject "Neurocutaneous Syndromes genetics.".
catalog subject "Neurocutaneous Syndromes therapy.".
catalog subject "Neurocutaneous disorders.".
catalog subject "RL701 .N48 2004".
catalog subject "WL 140 N49413 2004".
catalog tableOfContents "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.".
catalog tableOfContents "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.".
catalog tableOfContents "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.".
catalog title "Neurocutaneous disorders / edited by E. Steve Roach and Van S. Miller.".
catalog type "text".