000			03858nam a22005535i 4500
001			978-3-540-74723-9
003			DE-He213
005			20140220084520.0
007			cr nn 008mamaa
008			100301s2010 gw | s |||| 0|eng d
020			_a9783540747239 _9978-3-540-74723-9
024	7		_a10.1007/978-3-540-74723-9 _2doi
050		4	_aRJ1-570
072		7	_aMJW _2bicssc
072		7	_aMED069000 _2bisacsh
082	0	4	_a618.92 _223
100	1		_aHoffmann, Georg F. _eeditor.
245	1	0	_aInherited Metabolic Diseases _h[electronic resource] : _bA Clinical Approach / _cedited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan.
264		1	_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg : _bImprint: Springer, _c2010.
300			_aApprox. 0 p. 58 illus., 25 illus. in color. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_ato Inborn Errors of Metabolism -- Disorders of Intermediary Metabolism -- Disorders of the Biosynthesis and Breakdown of Complex Molecules -- Neurotransmitter Defects and Related Disorders -- Approach to the Patient with Metabolic Disease -- When to Suspect Metabolic Disease -- Metabolic Emergencies -- Metabolic Emergencies -- Metabolic Emergencies -- Metabolic Emergencies -- Metabolic Emergencies -- Metabolic Emergencies -- Metabolic Emergencies -- Metabolic Emergencies -- Patient Care and Treatment -- Anesthesia and Metabolic Disease -- Organ Systems in Metabolic Disease -- Approach to the Patient with Cardiovascular Disease -- Liver Disease -- Gastrointestinal and General Abdominal Symptoms -- Kidney Disease and Electrolyte Disturbances -- Neurological Disease -- Metabolic Myopathies -- Psychiatric Disease -- Eye Disorders -- Skin and Hair Disorders -- Physical Abnormalities in Metabolic Diseases -- Hematological Disorders -- Immunological Problems -- Investigations for Metabolic Diseases -- Newborn Screening for Inherited Metabolic Disease -- Biochemical Studies -- Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases -- DNA Studies -- Pathology — Biopsy -- Suspected Mitochondrial Disorder -- Postmortem Investigations -- Function Tests -- Family Issues, Carrier Tests, and Prenatal Diagnosis.
520			_aThe explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients.
650		0	_aMedicine.
650		0	_aHuman genetics.
650		0	_aFamily medicine.
650		0	_aInternal medicine.
650		0	_aNeurology.
650		0	_aPathology.
650		0	_aPediatrics.
650	1	4	_aMedicine & Public Health.
650	2	4	_aPediatrics.
650	2	4	_aInternal Medicine.
650	2	4	_aGeneral Practice / Family Medicine.
650	2	4	_aNeurology.
650	2	4	_aPathology.
650	2	4	_aHuman Genetics.
700	1		_aZschocke, Johannes. _eeditor.
700	1		_aNyhan, William L. _eeditor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9783540747222
856	4	0	_uhttp://dx.doi.org/10.1007/978-3-540-74723-9
912			_aZDB-2-SME
999			_c111217 _d111217