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008			161110s2016 gw | s |||| 0|eng d
020			_a9783662497715
024	7		_a10.1007/978-3-662-49771-5 _2doi
040			_aES-MaUEC _cUEV _bspa _dES-VaUE
050		4	_aRC627.8 _bI536 2016 EB
245	1	0	_aInborn Metabolic Diseases : _bDiagnosis and Treatment _cedited by Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter.
260			_aBerlin, Heidelberg _bSpringer Berlin Heidelberg _bImprint: Springer _c2016.
300			_a1 recurso en línea (XXXI, 658 p.)
336			_aTexto (visual) _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
505	0		_aSection I Diagnosis and Treatment: General Principles -- Section II Disorders of Carbohydrate Metabolism -- Section III Disorders of Mitochondrial Energy Metabolism -- Section IV Disorders of Amino Acid Metabolism and Transport -- Section V Vitamin-Responsive Disorders -- Section VI Neurotransmitter and Small Peptide Disorders -- Section VII Disorders of Lipid and Bile Acid Metabolism -- Section VIII Disorders of Nucleic and Heme Metabolism -- 35 Disorders of Purine and Pyrimidine Metabolism -- 36 Disorders of Haem Biosynthesis -- Section IX Disorders of Metal Transport -- Section X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems -- Section XI Appendices.
520			_aThis work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications. Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles. Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children�s Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester.
650	0	4	_aHuman genetics. _0http://id.loc.gov/authorities/subjects/sh85062875 _9546514 _0Local
650	0	4	_aEndocrinology. _0http://id.loc.gov/authorities/subjects/sh85043068 _9547573 _0Local
650	0	4	_aPediatrics. _0http://id.loc.gov/authorities/subjects/sh85099185 _9547552 _0Local
650	0	4	_aPediatrics. _9547552 _0Local
650	0	4	_aHuman Genetics. _9546514 _0Local
650	0	4	_aEndocrinology. _9547573 _0Local
650		7	_9405021 _aMedicina _0comprobar BNE19900959047 _2embne
650		7	_aGenética humana _9140562 _0comprobar BNE19900986777 _2embne
650		7	_aEndocrinología _9139372 _0comprobar BNE19900971669 _2embne
650		7	_9139040 _aNeurología _0comprobar BNE19900967585 _2embne
650		7	_aPediatría _9139076 _0comprobar BNE19900968036 _2embne
650		7	_aPediatría _9139076 _0comprobar BNE19900968036 _2embne
650		7	_aGenética humana _9140562 _0comprobar BNE19900986777 _2embne
650		7	_aEndocrinología _9139372 _0comprobar BNE19900971669 _2embne
650		7	_9139040 _aNeurología _0comprobar BNE19900967585 _2embne
650	0	7	_aSalud pública _0Local _2embne _9138408
650	0	4	_9405021 _aMedicina _0http://id.loc.gov/authorities/subjects/sh85083064 _0Local
650	0	4	_9139040 _aNeurología _0http://id.loc.gov/authorities/subjects/sh85091139 _0Local
650	0	4	_9139040 _aNeurología _0Local
650	0	7	_aSalud pública _0Local _2embne _9138408
700	1		_aSaudubray, Jean-Marie. _eeditor literario _9101909 _0Local
700	1		_aBaumgartner, Matthias R. _eeditor literario _9101910 _0Local
700	1		_aWalter, John. _eeditor literario _9101911 _0Local
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://dx.doi.org/10.1007/978-3-662-49771-5 _zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
907			_a.b12982805 _b10-10-17 _c08-03-17
942			_2lcc _cLE
945			_aRC627.8 I536 2016 EB _g1 _ieBOOK _j0 _lmae _o- _pEUR0.00 _q- _r- _sb _t15 _u0 _v0 _w0 _x0 _y.i11604645 _z06-04-17
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