000			04131nam a22003615i 4500
999			_c80453 _d80453 _x1
001			80453
003			ES-MaUEC
005			20230202102611.0
007			cr nn 008mamaa
008			140719s2014 gw | s |||| 0|eng d
020			_a9783540694663
024	7		_a10.1007/978-3-540-69466-3 _2doi
040			_dES-MaUEC
050		4	_aRE551 _b.I544 2014
245	1	0	_aInherited Chorioretinal Dystrophies : _bA Textbook and Atlas _cedited by Bernard Puech, Jean-Jacques De Laey, Graham E. Holder.
260			_aBerlin, Heidelberg _bSpringer International Publishing _c2014
300			_a1 recurso en línea (XV, 488 p.) _b428 ilustraciones, 339 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aInvestigations -- Introduction to molecular genetics and genetic testing for retinal dystrophies- Electrophysiological testing -- Dark adaptation -- Fluorescein angiography -- ICG angiography -- Fundus autofluorescence in retinal dystrophies -- Spectral-domain optical coherence tomography in hereditary retinal dystrophies. Inherited Retinal Dystrophies -- Inherited stationary disorders of the retina -- Retinitis pigmentosa and allied disorders -- Leber congenital amaurosis -- Retinitis punctata albescens -- Usher Syndromes -- Cone and Cone-rod dystrophies -- Enhanced S-Cone syndrome -- Chorioretinopathies: Choroideremia and gyrate atrophy -- Late onset retinal degeneration -- Stargardt Disease -- Bestrophinopathies -- Retinal dystrophies associated with the PRPH2 gene -- AlstrÃœm syndrome -- Bardet-Biedl syndrome -- Cohen syndrome -- Juvenile neuronal ceroid lipofuscinosis (JNCL) -- Adult Refsum disease -- Abetalipoproteinemia -- LCHAD deficiency -- Jalili syndrome -- Spinocerebellar ataxia -- Dominant cystoid macular dystrophy -- Autosomal dominant Stargardt-like macular dystrophy (ELOVL4). - Spastic paraplegia and retinal degeneration. Kjellin syndrome -- Autosomal dominant drusen -- Cuticular drusen -- Extensive macular atrophy with pseudodrusen-like appearance (EMAP) -- Congenital hypotrichosis with juvenile macular dystrophy -- Mitochondrial retinopathies -- Sorsby fundus dystrophy -- Bietti crystalline corneoretinal dystrophy -- Cystinosis -- Oxalosis -- Alport syndrome -- X-linked retinoschisis -- Paramacular choriocapillaris atrophy -- Exudative vitreoretinopathy -- Stickler syndrome -- Wagner syndrome -- Incontinentia pigmenti Type II (IP2) -- Ganglion cell disease -- Pseudoxanthoma elasticum -- Aicardi Syndrome -- Chorioretinal dysplasia-microcephaly-mental retardation syndrome (Azial-Dufier syndrome) -- Alagille syndrome -- Future therapies for retinitis pigmentosa.
520			_aThis lavishly illustrated atlas provides indispensable information to clinicians, geneticists and visual scientists working with inherited retinal diseases. It is filled with high-quality images, up-to-date genetic information and comprehensive electrophysiology. The data for each individual disorder have been summarised in an accessible, reader-friendly format for easy reference. The illustrations include colour fundus photographs, fluorescein angiograms, OCT scans, electrophysiological studies and pedigrees. The editors and authors are well-known experts in the field and have drawn upon their extensive experience to produce this unique atlas.
650		7	_2embne _9190667 _aRetina _xEnfermedades
700	1		_aPuech, Bernard _eeditor literario _988641 _0Local
700	1		_aDe Laey, Jean-Jacques _eeditor literario _988642 _0Local
700	1		_aHolder, Graham E _eeditor literario _988643 _0Local
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-540-69466-3 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12882069 _b10-10-17 _c11-11-15
942			_2lcc _cLE
945			_aRE551 .I544 2014 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11561889 _z06-04-17
988			_aEBSPRINGER
998			_am _a_alco _a_vill _b11-11-15 _cm _dz _e- _feng _ggw _h0