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020			_a9783662631232
024	7		_a10.1007/978-3-662-63123-2 _2doi
040			_aTR-AnTOB _beng _erda _cTR-AnTOB
041			_aeng
060			_aWD 205
072		7	_aMJW _2bicssc
072		7	_aMED069000 _2bisacsh
072		7	_aMKD _2thema
096			_aWD205EBK
245	1	0	_aInborn Metabolic Diseases _h[electronic resource] : _bDiagnosis and Treatment / _cedited by Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John Walter.
250			_a7th ed. 2022.
264		1	_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2022.
300			_a1 online resource
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
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. .
650		0	_aPediatrics.
650		0	_aMedical genetics.
650		0	_aInternal medicine.
650		0	_aNeurology .
650	1	4	_aPediatrics.
650	2	4	_aMedical Genetics.
650	2	4	_aInternal Medicine.
650	2	4	_aNeurology.
653		0	_aMetabolism, Inborn Errors -- diagnosis
653		0	_aMetabolism, Inborn Errors -- therapy
700	1		_aSaudubray, Jean-Marie. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt
700	1		_aBaumgartner, Matthias R. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt
700	1		_aGarcía-Cazorla, Ángeles. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt
700	1		_aWalter, John. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt
710	2		_aSpringerLink (Online service)
856	4	0	_uhttps://doi.org/10.1007/978-3-662-63123-2 _3Springer eBooks _zOnline access link to the resource
942			_2NLM _cEBK