000			05148cam a2200445Ii 4500
001			94601
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008			160922t20172017gw a ob 001 0 eng d
020			_a3662494108 _q(electronic bk.)
020			_a9783662494103 _q(electronic bk.)
020			_z3662494086 _q(hardcover ; _qalk. paper)
020			_z9783662494080 _q(hardcover ; _qalk. paper)
035			_a(OCoLC)958936379 _z(OCoLC)959039411 _z(OCoLC)959151126 _z(OCoLC)962058859 _z(OCoLC)966097509 _z(OCoLC)974650087 _z(OCoLC)1005809394
040			_aN$T _cN$T _dN$T _dGW5XE _dEBLCP _dCASUM _dOCLCO _dYDX _dOCLCO _dUAB _dOCLCO _dMMU _dOCLCO _dCOO _dAZU _dUPM _dOCLCF _dOCLCQ _dIOG _dMERER _dESU _dOCLCQ _dJBG _dIAD _dICW _dICN _dILO _dVT2 _dU3W _dES-MaUEC _bspa
050		4	_aRC627.8 _b2017 EB
130	0		_aInherited metabolic diseases (Springer)
245	1	0	_aInherited metabolic diseases : _ba clinical approach _cGeorg F. Hoffmann, Johannes Zschocke, William L. Nyhan, editors.
250			_aSecond edition.
264		1	_aHeidelberg, Germany _bSpringer International Publishing _c2017
264		4	_c2017
300			_a1 recurso en línea (xviii, 605 páginas) _bilustraciones (algunas a color)
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF _2rda
504			_aIncluye referencias bibliográficas e índice
505	0		_aIntroduction to inborn errors of metabolism: disorders of intermediary metabolism -- Mitochondriopathies neurotransmitter defects -- Disorders of the biosynthesis and breakdown of complex molecules. Approach to the patient: when to suspect metabolic disease -- Patient care and treatment -- Metabolic emergencies -- Anesthesia and metabolic disease -- Principles of dietary therapy -- Principles of enzyme replacement therapy -- Principles of gene therapy. Organ systems in metabolic disease: cardiovascular disease -- Liver disease -- Gastrointestinal and general abdominal symptoms -- Kidney disease and electrolyte disturbances -- Neurological disease -- Metabolic myopathies -- Psychiatric disease -- Eye disorder -- Skin and hair disorders -- Bone disorders -- Physical abnormalities in metabolic diseases -- Hematological disorders -- Immunological problems. Investigations for metabolic diseases: newborn screening -- Biochemical studies -- Enzymes, metabolic pathways, flux control analysis and the enzymology of specific groups of inherited metabolic diseases -- Molecular investigations (DNA studies) -- Pathology / Biopsy -- Postmortem investigations -- Neuroimaging -- Function tests -- Suspected mitochondrial disorder. Appendix: differential diagnosis of clinical and biochemical phenotypes.
520	3		_a"This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists"--Publisher's description.
650		7	_aMedicina familiar y comunitaria _2embne _0(OCoLC)fst00920401 _0 _9148375
700	1		_aHoffmann, Georg F. _q(Georg Friedrich), _eeditor literario
700	1		_aNyhan, William L., _d1926- _eeditor literario
700	1		_aZschocke, Johannes, _eeditor literario _933188
730	0		_iPreceded by: _aInherited metabolic diseases.
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-662-49410-3 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aSpringer_Medicine_2017
998			_b02/2018 _dz _e- _zSI
999			_c94601 _d94601 _x1