Keywords:
Human Physiology
;
Human physiology
;
Biochemistry
;
Medical biochemistry.
;
Brain Diseases, Metabolic, Inborn pathology
;
Genetic Diseases, Inborn pathology
;
Biochemical Phenomena
;
Case Reports
Description / Table of 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
Type of Medium:
Online Resource
Pages:
1 Online-Ressource (XI, 349 p. 167 illus., 113 illus. in color)
ISBN:
9789811329777
Series Statement:
Springer eBooks
URL:
https://doi.org/10.1007/978-981-13-2977-7
DOI:
10.1007/978-981-13-2977-7
Language:
English
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