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020			_a9783662631232
024	7		_a10.1007/978-3-662-63123-2 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRC627.8 _b2022 EB
245	0	0	_aInborn Metabolic Diseases : _bDiagnosis and Treatment _cedited by Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter
250			_a7th edition 2022
264		1	_aBerlin, Heidelberg _bSpringer Berlin Heidelberg _c2022
300			_a1 recurso en línea (XXXIX, 894 páginas) _b102 ilustraciones, 96 ilustraciones a color
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
505	0		_aI Diagnosis and treatment: General principles -- II Disorders of Energy Metabolism -- III Small Molecule Disorders -- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders -- Section V Appendices.
520			_aThis 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. Contents A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris. Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona. John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
988			_aSpringer_Medicine_2022
650		7	_2embne _9156016 _aEnfermedades hereditarias metabólicas
700			_aSaudubray, Jean-Marie. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _9101909
700	1		_aBaumgartner, Matthias R. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _930695
700	1		_aGarcía-Cazorla, Ángeles _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt
700			_aWalter, John. _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt _9101911
773	0		_tSpringer Nature eBook
776	0	8	_iPrinted edition: _z9783662631225
776	0	8	_iPrinted edition: _z9783662631249
776	0	8	_iPrinted edition: _z9783662631256
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-662-63123-2 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b09/2022 _dz _eIG _zSI