000			03114nam a22005175i 4500
001			978-3-540-76698-8
003			DE-He213
005			20161121230848.0
007			cr nn 008mamaa
008			100301s2008 gw | s |||| 0|eng d
020			_a9783540766988 _9978-3-540-76698-8
024	7		_a10.1007/978-3-540-76698-8 _2doi
050		4	_aRC627.5-632
072		7	_aMFGM _2bicssc
072		7	_aMED027000 _2bisacsh
082	0	4	_a616.39 _223
245	1	0	_aLaboratory Guide to the Methods in Biochemical Genetics _h[electronic resource] / _cedited by Nenad Blau, Marinius Duran, K. Michael Gibson.
264		1	_aBerlin, Heidelberg : _bSpringer Berlin Heidelberg, _c2008.
300			_aXXVI, 860 p. _bonline resource.
336			_atext _btxt _2rdacontent
337			_acomputer _bc _2rdamedia
338			_aonline resource _bcr _2rdacarrier
347			_atext file _bPDF _2rda
505	0		_aLaboratory Strategies in Biochemical Genetics -- Quality Control and Quality Assurance in the Biochemical Genetic Laboratory -- Simple Metabolic Screening Tests -- Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate -- Amino Acids -- Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine -- GABA, Homocarnosine, and ?-Alanine -- Pipecolic Acid -- Organic Acids -- Acylcarnitines, Including In Vitro Loading Tests -- Plasmalogens and Polyunsaturated Fatty Acids -- Very-Long-Chain Fatty Acids and Phytanic Acid -- Oxalate, Glycolate, Glycerate, Sulfate, and Citrate -- Glycerol and Glycerol Phosphates -- Biotinidase -- Mitochondrial Respiratory Chain -- Mucopolysaccharides -- Oligosaccharides -- Sialic Acid -- Glycosphingolipids -- Congenital Disorders of Glycosylation -- Enzymes and Metabolites of Carbohydrate Metabolism -- Polyols -- Diagnosis of Inherited Defects of Cholesterol Biosynthesis -- Lipoproteins -- Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry -- Bile Acids -- Pterins and Related Enzymes -- Biogenic Amines -- Folates -- Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry -- Creatine and its Metabolites -- Porphyrins, Porphobilinogen, and ?-Aminolevulinic Acid -- Trimethylaminuria -- A Tandem Mass Spectrometry Primer for Metabolite Disease Detection -- Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders.
650		0	_aMedicine.
650		0	_aHuman genetics.
650		0	_aLaboratory medicine.
650		0	_aMetabolic diseases.
650		0	_aPediatrics.
650		0	_aBiochemistry.
650	1	4	_aMedicine & Public Health.
650	2	4	_aMetabolic Diseases.
650	2	4	_aLaboratory Medicine.
650	2	4	_aBiochemistry, general.
650	2	4	_aHuman Genetics.
650	2	4	_aPediatrics.
700	1		_aBlau, Nenad. _eeditor.
700	1		_aDuran, Marinius. _eeditor.
700	1		_aGibson, K. Michael. _eeditor.
710	2		_aSpringerLink (Online service)
773	0		_tSpringer eBooks
776	0	8	_iPrinted edition: _z9783540766971
856	4	0	_uhttp://dx.doi.org/10.1007/978-3-540-76698-8
912			_aZDB-2-SME
950			_aMedicine (Springer-11650)
999			_c505072 _d505072