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Chapter-20 Metabolic Diseases

BOOK TITLE: Hutchison's Paediatrics

Author
1. Goel Krishna M
2. Galloway Peter
3. Srivastava Rajeev
ISBN
9789350257715
DOI
10.5005/jp/books/11591_20
Edition
2/e
Publishing Year
2012
Pages
21
Author Affiliations
1. University of Glasgow and Consultant Paediatrician, Royal Hospital for Sick Children, Glasgow, Scotland, UK, University of Glasgow; the Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK, University of Glasgow; Royal Hospital for Sick Children, Glasgow, Scotland, UK
2. Royal Hospital for Sick Children, Glasgow, Scotland, UK, New South Glasgow Biochemistry Laboratory, Glasgow, Scotland, UK
Chapter keywords
Inborn errors of metabolism, inherited metabolic disorder, congenital hypogammaglobulinaemia, de Toni-Fanconi syndrome, glycogen storage disease, Morquio disease, urea cycle disorders, hyperlactic acidaemia, Crigler-Najjar syndrome, Zellweger syndrome, maternal phenylketonuria, breast-fed infants, metabolic disorders, hypertyrosinaemia, alkaptonuria, hepatocellular carcinoma, maple syrup urine disease, gas chromatography-mass spectrometry, Marfan\'s syndrome, single-agent therapy, gram-negative sepsis, Lesch-Nyhan syndrome, hereditary orotic aciduria, haemoglobin M disease, Embden-Meyerhof glycolytic pathway, glycogen storage disorders, Gierke disease, Pompe’s disease, enzyme replacement therapy, WerdnigHoffmann disease, brancher enzyme deficiency, McArdle disease, Gaucher disease, second-wind phenomenon, Niemann-Pick Disease, Tay-Sachs disease, Sandhoff disease, Hurler syndrome, Hunter syndrome, Sanfilippo syndrome, Scheie syndrome, Maroteaux-Lamy syndrome, Sly syn

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