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003			ES-MaUEC
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007			cr nn 008mamaa
008			140307s2014 gw | s |||| 0|eng d
020			_a9783642403378
024	7		_a10.1007/978-3-642-40337-8 _2doi
040			_dES-MaUEC
050		4	_aRC627.8 _bP497 2014
245	1	0	_aPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases _cedited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici.
260			_aBerlin, Heidelberg _bSpringer International Publishing _c2014
300			_a1 recurso en línea (XLV, 867 p.) _b163 ilustraciones, 82 ilustraciones en color
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aIntroductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles.
520			_aThis book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physicianâ€{u3807}uide documents the features of more than five hundred conditions, grouped according to disorder category.Â{u04A5}levant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.
650		7	_2embne _9156016 _aEnfermedades hereditarias metabólicas
700	1		_aBlau, Nenad _eeditor literario _988790 _0Local
700	1		_aDuran, Marinus _eeditor literario _988791 _0Local
700	1		_aGibson, K. Michael _eeditor literario _0Local _988505
700	1		_aDionisi Vici, Carlo _eeditor literario _988792 _0Local
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://link.springer.com/book/10.1007/978-3-642-40337-8 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
907			_a.b12882823 _b10-10-17 _c11-11-15
942			_2lcc _cLE
945			_aRC627.8 P497 2014 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i1156264x _z06-04-17
988			_aEBSPRINGER
998			_am _a_alco _a_vill _b11-11-15 _cm _dz _e- _feng _ggw _h0