000			04720nam a22005535i 4500
001			978-3-031-58819-8
003			DE-He213
005			20260730114133.0
007			cr nn 008mamaa
008			241101s2024 sz | s |||| 0|eng d
020			_a9783031588198
024	7		_a10.1007/978-3-031-58819-8 _2doi
040			_aEG-CaUEC _beng _cEG-CaUEC _dEG-CaUEC _erda
072		7	_aMFN _2thema
082	0	4	_a616.042 _223
245	1	0	_aLaboratory Guide to the Methods in Biochemical Genetics _h[electronic resource] / _cedited by Nenad Blau, Frédéric M. Vaz.
250			_aSecond edition 2024.
264		1	_aCham : _bSpringer International Publishing : _bImprint: Springer, _c2024.
300			_aXVII, 533 p. 177 illus., 86 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		_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 andRelated 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.
520			_aNow in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited metabolic diseases. The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not all) biochemical laboratories, to analytical methods that depend on technologies that very few are currently employing in their labs, but are certainly the functional techniques in a biochemical laboratory in this post-genomics era. Each chapter is sufficiently detailed to be self-contained, thus enabling laboratory specialists to adopt the method in their own laboratory and obviating the need for additional methods or references. The second updated edition of the book is unique in that it is the first of its kind to be published in the last 13 years, and individual chapters have been developed by experts in the field citing both established and cutting-edge (omics) technology. Thus, it is an indispensable resource for researchers and clinicians working on the field of inherited metabolic diseases and those interested in laboratory diagnoses.
650		0	_aMedical genetics. _9545
650		0	_aClinical biochemistry. _9546
650		0	_aMetabolism _xDisorders. _9547
650		0	_aBiochemistry.
650		0	_aMedicine _xResearch. _9322
650		0	_aBiology _xResearch. _9323
650	1	4	_aMedical Genetics. _9548
650	2	4	_aMedical Biochemistry. _9179
650	2	4	_aMetabolic Disease. _9549
650	2	4	_aBiochemistry.
650	2	4	_aBiomedical Research. _9326
700	1		_aBlau, Nenad. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _9550
700	1		_aVaz, Frédéric M. _eeditor. _4edt _4http://id.loc.gov/vocabulary/relators/edt _9551
710	2		_aSpringerLink (Online service) _99
773	0		_tSpringer Nature eBook
776	0	8	_iPrinted edition: _z9783031588181
776	0	8	_iPrinted edition: _z9783031588204
776	0	8	_iPrinted edition: _z9783031588211
856	4	0	_uhttps://link.springer.com/book/10.1007/978-3-031-58819-8
942			_2ddc _n0 _cEBK
949			_aElectronic resource _wASIS _mONLINE _kONLINE _lONLINE _oSpringer Nature 2016-2024 imprints in 17 collections 20241108 _rY _sY _tONLINE
999			_c144 _d144