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Atlas Of Inherited Metabolic Diseases 4e by William L Nyhan (Author); Bruce A. Barshop (Author); Georg F Hoffmann (Author) is a nonfiction available to read on EtoBox.

What is Atlas Of Inherited Metabolic Diseases 4e about?

PART 1: ORGANIC ACIDEMIAS. Introduction to the organic acidemias. Propionic academia. Methylmalonic academia. Cobalamin C, D, F, G diseases; methylmalonic aciduria and homocystinuria. The methylmalonic aciduria of deficiency of AcylCoA synthetase (ACSF3). Multiple carboxylase deficiency/holocarboxylase synthetase deficiency. Multiple carboxylase deficiency/biotinidase deficiency. Isovaleric academia. Glutaric aciduria (type I). 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria. D-2-hydroxyglutaric aciduria. L-2-hydroxyglutaric aciduria. 4-Hydroxybutyric aciduria. PART 2: DISORDERS OF AMINO ACID METABOLOISM. Alkaptonuria. Phenylketonuria. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin. Biogenic amines. Homocystinuria. Maple syrup urine disease (branched-chain oxoaciduria). Branched chain keto acid dehydrogenase kinase (BCKDK) deficiency. Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency. Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency. Nonketotic hyperglycinemia. Serine deficiencies. PART 3: HYPERAMMONEMIA AND DISORDERS OF THE UREA CYCLE. Introduction to hyperammonemia and disorders of the urea cycle. Ornithin

Who reads Atlas Of Inherited Metabolic Diseases 4e?

Author

William L Nyhan (Author); Bruce A. Barshop (Author); Georg F Hoffmann (Author)

Publisher

CRC Press

Published

2020

Language

EN

ISBN

9781138196605

Category

nonfiction