04583nam a22005295i 4500001001800000003000900018005001700027007001500044008004100059020001800100024003500118040004300153072001500196082001600211245012900227250002500356264007500381300006700456336002600523337002600549338003600575347002400611505145200635520110802087650002703195650003203222650003203254650001803286650002903304650002803333650002703361650003103388650002803419650001803447650003003465700007903495700008703574710003703661773002603698776003603724776003603760776003603796856006103832942001603893949013103909999001304040978-3-031-58819-8DE-He21320260730114133.0cr nn 008mamaa241101s2024    sz |    s    |||| 0|eng d  a97830315881987 a10.1007/978-3-031-58819-82doi  aEG-CaUECbengcEG-CaUECdEG-CaUECerda 7aMFN2thema04a616.04222310aLaboratory Guide to the Methods in Biochemical Geneticsh[electronic resource] /cedited by Nenad Blau, Frédéric M. Vaz.  aSecond edition 2024. 1aCham :bSpringer International Publishing :bImprint: Springer,c2024.  aXVII, 533 p. 177 illus., 86 illus. in color.bonline resource.  atextbtxt2rdacontent  acomputerbc2rdamedia  aonline resourcebcr2rdacarrier  atext filebPDF2rda0 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.  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. 0aMedical genetics.9545 0aClinical biochemistry.9546 0aMetabolismxDisorders.9547 0aBiochemistry. 0aMedicinexResearch.9322 0aBiologyxResearch.932314aMedical Genetics.954824aMedical Biochemistry.917924aMetabolic Disease.954924aBiochemistry.24aBiomedical Research.93261 aBlau, Nenad.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt95501 aVaz, Frédéric M.eeditor.4edt4http://id.loc.gov/vocabulary/relators/edt95512 aSpringerLink (Online service)990 tSpringer Nature eBook08iPrinted edition:z978303158818108iPrinted edition:z978303158820408iPrinted edition:z978303158821140uhttps://link.springer.com/book/10.1007/978-3-031-58819-8  2ddcn0cEBK  aElectronic resourcewASISmONLINEkONLINElONLINEoSpringer Nature 2016-2024 imprints in 17 collections 20241108rYsYtONLINE  c144d144