Human pathobiochemistry : from clinical studies to molecular mechanisms /: from clinical studies to molecular mechanisms. (2019)

• Record Type: Book
• Further Information: Note: Toshitaka Oohashi, Hirokazu Tsukahara, Francesco Ramirez, Chad L. Barber, Fumio Otsuka, editors.
• Editors: Oohashi, Toshitaka; Tsukahara, Hirokazu; Ramirez, Francesco; Barber, Chad L; Otsuka, Fumio
• Contents: Part 1 Metabolic Disorders. Citrin deficiency'.- Homocystinuria No Acquaintance.- Phenylketonuria.- Urea cycle disorders (such as defects of OTCD)'.- Wilson disease.- Diabetes Mellitus type I.- Lipid storage disorder, namely Niemann-Pick C1 disease.- Gaucher disease.- Fabry disease.- Mitochondrial disease (such as defects of MELAS).- Heme oxygenase deficiency.- Collagen metabolism (such as OI).- Organic acid metabolism disorders.- Part 2 Genetic Disorders. Glucose 6-Phosphate Dehydrogenase Deficiency.- Familial Hypercholesterolemia.- Fukuyama muscular dystrophy.- Hemoglobin.- Huntington disease.- Anti-coagulant deficiency.- Auto-inflammatory disorders.- Cancer.- Marfan syndrome.- Human immunodeficiency virus infection.- Hepatitis virus C.- Cytomegalovirus infection (especially congenital infection).- Addiction.
• Publisher Details: Singapore : Springer
• Publication Date: 2019
• Extent: 1 online resource (xi, 349 pages), illustrations (some color)
• Subjects: 612/.015; Clinical biochemistry; Electronic books
• Languages: English
• ISBNs: 9789811329777
• Related ISBNs: 981132977X; 9789811329760
• Notes: Note: Online resource; title from PDF title page (SpringerLink, viewed March 25, 2019).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.