Atlas of Metabolic Diseases 2nd Edition by William L Nyhan,Bruce A Barshop,Pinar T Ozand ISBN 0340809701 9780340809709

Atlas of Metabolic Diseases 2nd Edition by William L. Nyhan M.D., Bruce A. Barshop M.D., Pinar T. Ozand M.D. – Ebook PDF Instant Download/Delivery: 0340809701, 9780340809709

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Product details:

ISBN 10: 0340809701

ISBN 13: 9780340809709 

Author: William L. Nyhan M.D., Bruce A. Barshop M.D., Pinar T. Ozand M.D.

Table of contents:

Part 1: Organic acidemias

• Chapter 1: Introduction

• Chapter 2: Propionic acidemia

• Chapter 3: Methylmalonic acidemia

• Chapter 4: Methylmalonic aciduria and homocystinuria (cobalamin C and D disease)

• Chapter 5: Multiple carboxylase deficiency/holocarboxylase synthetase deficiency

• Chapter 6: Multiple carboxylase deficiency/biotinidase deficiency

• Chapter 7: Isovaleric acidemia

• Chapter 8: Glutaric aciduria (type I)

• Chapter 9: 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria

• Chapter 10: 3-Methylglutaconic aciduria

• Chapter 11: 3-Hydroxyisobutyric aciduria

• Chapter 12: Malonic aciduria

• Chapter 13: D-2-Hydroxyglutaric aciduria

• Chapter 14: L-2-Hydroxyglutaric aciduria

• Chapter 15: 2-Oxoadipic aciduria

• Chapter 16: 4-Hydroxybutyric aciduria

• Chapter 17: Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency

Part 2: Disorders of amino acid metabolism

• Chapter 18: Albinism

• Chapter 19: Alkaptonuria

• Chapter 20: Phenylketonuria

• Chapter 21: Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin

• Chapter 22: Homocystinuria

• Chapter 23: Homocystinuria due to n(5,10)-methylenetetrahydrofolate reductase

• Chapter 24: Maple syrup urine disease (branched-chain oxoaciduria)

• Chapter 25: Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency

• Chapter 26: Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency

• Chapter 27: Nonketotic hyperglycinemia

Part 3: Hyperammonemia and disorders of the urea cycle

• Chapter 28: Introduction to hyperammonemia and disorders of the urea cycle

• Chapter 29: Ornithine transcarbamylase deficiency

• Chapter 30: Carbamyl phosphate synthetase deficiency

• Chapter 31: Citrullinemia

• Chapter 32: Argininosuccinic aciduria

• Chapter 33: Argininemia

• Chapter 34: Hyperornithinemia, Hyperammonemia, Homocitrullinuria (HHH) syndrome

• Chapter 35: Lysinuric protein intolerance

Part 4: Disorders of fatty acid oxidation

• Chapter 36: Introduction to disorders of fatty acid oxidation

• Chapter 37: Carnitine transporter deficiency

• Chapter 38: Carnitine translocase deficiency

• Chapter 39: Carnitine palmitoyl transferase I deficiency

• Chapter 40: Medium chain acyl CoA dehydrogenase deficiency

• Chapter 41: Very long-chain acyl CoA dehydrogenase (VLCAD) deficiency

• Chapter 42: Long chain L-3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency – trifunctional protein deficiency

• Chapter 43: Short-chain acyl CoA dehydrogenase (SCAD) deficiency

• Chapter 44: Short-chain 3-hydroxyacyl CoA dehydrogenase (SCHAD) deficiency

• Chapter 45: Multiple acyl CoA dehydrogenase deficiency (MADD)/Glutaric aciduria, type II/Ethylmalonic-adipic aciduria

• Chapter 46: 3-Hydroxy-3-methylglutaryl CoA lyase deficiency

Part 5: The lactic acidemias and mitochondrial disease

• Chapter 47: Introduction to the lactic acidemias

• Chapter 48: Pyruvate carboxylase deficiency

• Chapter 49: Fructose-1,6-diphosphatase deficiency

• Chapter 50: Deficiency of the pyruvate dehydrogenase complex (PDHC)

• Chapter 51: Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases

• Chapter 52: Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes (MELAS)

• Chapter 53: Myoclonic epilepsy and ragged red fiber (MERRF) disease

• Chapter 54: Neurodegeneration, ataxia and retinitis pigmentosa (NARP)

• Chapter 55: Kearns-Sayre syndrome

• Chapter 56: Pearson syndrome

• Chapter 57: The mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency

Part 6: Disorders of carbohydrate metabolism

• Chapter 58: Galactosemia

• Chapter 59: Glycogen storage disease: introduction

• Chapter 60: Glycogenosis type I – Von Gierke disease

• Chapter 61: Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency

• Chapter 62: Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency

Part 7: Peroxisomal disorders

• Chapter 63: Adrenoleukodystrophy

• Chapter 64: Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis

Part 8: Disorders of purine metabolism

• Chapter 65: Lesch-Nyhan disease and the non-Lesch-Nyhan variants of HPRT

• Chapter 66: Adenine phosphoribosyl-transferase (APRT) deficiency

• Chapter 67: Phosphoribosylpyrophosphate (PRPP) synthetase and its abnormalities

• Chapter 68: Adenosine deaminase deficiency

• Chapter 69: Adenylosuccinate lyase deficiency

Part 9: Disorders of transport and mineral metabolism

• Chapter 70: Cystinuria

• Chapter 71: Cystinosis

• Chapter 72: Hartnup disease

• Chapter 73: Histidinuria

• Chapter 74: Menkes disease

• Chapter 75: Wilson disease

Part 10: Mucopolysaccharidoses

• Chapter 76: Introduction to mucopolysaccharidoses

• Chapter 77: Hurler disease/mucopolysaccharidosis type IH (MPSIH)/-L-iduronidase deficiency

• Chapter 78: Scheie and Hurler–Scheie diseases/mucopolysaccharidosis IS and IHS/-iduronidase deficiency

• Chapter 79: Hunter disease/mucopolysaccharidosis type II (MPS II)/iduronate sulfatase deficiency

• Chapter 80: Sanfilippo disease/mucopolysaccharidosis type III (MPS III)

• Chapter 81: Morquio syndrome/mucopolysaccharidosis type IV (MPS IV)/keratan sulfaturia

• Chapter 82: Maroteaux-Lamy disease/mucopolysaccharidosis VI (MPS VI)/N-acetylgalactosamine-4-sulfatase deficiency

• Chapter 83: Sly disease/-glucuronidase deficiency/mucopolysaccharidosis VII (MPS VII)

Part 11: Mucolipidoses

• Chapter 84: I-cell disease/mucolipidosis II

• Chapter 85: Mucolipidosis III/psuedo-Hurler polydystrophy/N-acetyl-glucosaminyl-l-phosphotransferase deficiency

Part 12: Disorders of cholesterol and neutral lipid metabolism

• Chapter 86: Familial hypercholesterolemia

• Chapter 87: Mevalonic aciduria

• Chapter 88: Lipoprotein lipase deficiency/type I hyperlipoproteinemia

Part 13: Lipid storage disorders

• Chapter 89: Fabry disease

• Chapter 90: GM1 gangliosidosis/-galactosidase deficiency

• Chapter 91: Tay-Sachs disease/hexosaminidase A deficiency

• Chapter 92: Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency

• Chapter 93: GM2 activator deficiency/GM2 gangliosidosis – deficiency of the activator protein

• Chapter 94: Gaucher disease

• Chapter 95: Niemann-Pick disease

• Chapter 96: Niemann-Pick type C disease/cholesterol-processing abnormality

• Chapter 97: Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy

• Chapter 98: Wolman disease/cholesteryl ester storage disease

• Chapter 99: Fucosidosis

• Chapter 100: α-Mannosidosis

• Chapter 101: Galactosialidosis

• Chapter 102: Metachromatic leukodystrophy

• Chapter 103: Multiple sulfatase deficiency

Part 14: Miscellaneous

• Chapter 104: Congenital disorder of glycosylation, type Ia

• Chapter 105: Other forms of congenital disorders of glycosylation

• Chapter 106: 1-Antitrypsin deficiency

• Chapter 107: Canavan disease/aspartoacylase deficiency

• Chapter 108: Glutamyl-ribose-5-phosphate storage disease/ADP-ribosyl-protein lyase deficiency

• Chapter 109: Ethylmalonic encephalopathy

• Chapter 110: Disorders of creatine metabolism

• Chapter 111: Sanjad-Sakati syndrome

• Chapter 112: Al Aqeel-Sewairi syndrome – multicentric osteolysis, nodulosis, arthropathy (MONA) – MMP-2 deficiency

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Tags: William L Nyhan, Bruce A Barshop, Pinar T Ozand, Atlas, Metabolic Diseases