04720nam a22005535i 4500 978-3-031-58819-8 DE-He213 20260730114133.0 cr nn 008mamaa 241101s2024 sz | s |||| 0|eng d 9783031588198 10.1007/978-3-031-58819-8 doi EG-CaUEC eng EG-CaUEC EG-CaUEC rda MFN thema 616.042 23 Laboratory Guide to the Methods in Biochemical Genetics [electronic resource] / edited by Nenad Blau, Frédéric M. Vaz. Second edition 2024. Cham : Springer International Publishing : Imprint: Springer, 2024. XVII, 533 p. 177 illus., 86 illus. in color. online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier text file PDF rda Laboratory 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. Now 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. Medical genetics. 545 Clinical biochemistry. 546 Metabolism Disorders. 547 Biochemistry. Medicine Research. 322 Biology Research. 323 Medical Genetics. 548 Medical Biochemistry. 179 Metabolic Disease. 549 Biochemistry. Biomedical Research. 326 Blau, Nenad. editor. edt http://id.loc.gov/vocabulary/relators/edt 550 Vaz, Frédéric M. editor. edt http://id.loc.gov/vocabulary/relators/edt 551 SpringerLink (Online service) 9 Springer Nature eBook Printed edition: 9783031588181 Printed edition: 9783031588204 Printed edition: 9783031588211 https://link.springer.com/book/10.1007/978-3-031-58819-8 ddc 0 EBK Electronic resource ASIS ONLINE ONLINE ONLINE Springer Nature 2016-2024 imprints in 17 collections 20241108 Y Y ONLINE 144 144