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008			220207s2022 si | s |||| 0|eng d
020			_a9789811673375
024	7		_a10.1007/978-981-16-7337-5 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRE551 _b2022 EB
245	0	0	_aInherited Retinal Disease _cedited by Hyeong-Gon Yu
250			_aFirst edition 2022
264		1	_aSingapore _bSpringer International Publishing _c2022
300			_a1 recurso en línea (VIII, 237 páginas) _b60 ilustraciones, 49 ilustraciones a color
336			_2rdacontent _aTexto _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_aarchivo de texto _bPDF
505	0		_aMolecular Genetics of Inherited Retinal Diseases -- Approach to Inherited Retinal Diseases -- Stem Cell and Gene Therapy for Inherited Retinal Diseases -- Retinitis Pigmentosa -- Syndromic Retinitis.-Pigmentosa -- Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy -- Congenital Stationary Night Blindness -- Vitelliform Macular Dystrophy -- Stargardt Macular Dystrophy -- Cone Dystrophy / Cone-rod Dystrophy -- X-Linked Retinoschisis -- Von Hippel Lindau Disease and Retinal Hemangioblastoma -- Other Macular Dystrophies 1 -- Other Macular Dystrophies 2 -- Hereditary Vitreoretinal Degenerations -- Hereditary Choroidal Dystrophy -- Retinal Disorders Mimicking Inherited Retinal Diseases.
520			_aThis book presents the latest knowledge and expert guidance on all aspects of inherited retinal diseases, including molecular genetics, diagnosis, clinical features, general principles of treatment, novel treatment methods, and genetic counseling. Recent years have witnessed great advances in understanding of the genetic and cytological background of these diseases. Genetic analysis methods such as next generation sequencing have remarkably reduced the cost and time required for massive analysis of patients' samples. Studies on gene therapy and stem cell therapy have been successfully carried out in animal models, and gene therapy is now available for Leber congenital amaurosis caused by RPE65 mutations. Against this background, Inherited Retinal Disease will be an invaluable up-to-date resource for ophthalmologists, medical students, and researchers in ocular inflammation. In addition to supplying essential information on each individual disorder, it features many interesting cases contributed by global leaders in the field as well as clinical photographs obtained with newer imaging techniques and numerous images of rare but clinically important diseases.
988			_aSpringer_Medicine_2022
650		7	_2embne _9190667 _aRetina _xEnfermedades
650		7	_2embne _9144879 _aGenética médica
650		7	_2embne _9139186 _aOftalmología
700	1		_aYu, Hyeong-Gon _eeditor literario
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-981-16-7337-5 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE _n0
998			_b04/2022 _dz _eu _zSI