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Treffer 37 von 2403
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| Link zu diesem Datensatz | https://d-nb.info/1347216855 |
| Art des Inhalts | Aufsatzsammlung |
| Titel | Laboratory Guide to the Methods in Biochemical Genetics / edited by Nenad Blau, Frédéric M. Vaz |
| Person(en) |
Blau, Nenad (Herausgeber) Vaz, Frédéric (Herausgeber) |
| Organisation(en) | SpringerLink (Online service) (Sonstige) |
| Ausgabe | 2nd ed. 2024 |
| Verlag | Cham : Springer International Publishing, Imprint: Springer |
| Zeitliche Einordnung | Erscheinungsdatum: 2024 |
| Umfang/Format | Online-Ressource, XVII, 533 p. 177 illus., 86 illus. in color. : online resource. |
| Andere Ausgabe(n) |
Printed edition:: ISBN: 978-3-031-58818-1 Printed edition:: ISBN: 978-3-031-58820-4 Printed edition:: ISBN: 978-3-031-58821-1 |
| Inhalt | 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 |
| Persistent Identifier |
URN: urn:nbn:de:101:1-2411050306018.051560193982 DOI: 10.1007/978-3-031-58819-8 |
| URL | https://doi.org/10.1007/978-3-031-58819-8 |
| ISBN/Einband/Preis | 978-3-031-58819-8 |
| Sprache(n) | Englisch (eng) |
| Schlagwörter |
Molekulargenetik ; Labormedizin Stoffwechselkrankheit ; Angeborene Krankheit ; Labormedizin |
| DDC-Notation | 616.39042 [DDC22ger]; 616.0756 [DDC22ger] |
| Sachgruppe(n) | 610 Medizin, Gesundheit |
| Online-Zugriff | Archivobjekt öffnen |
Treffer 37 von 2403
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