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关键词:
Atlas of Metabolic Diseases Second Edition
书目信息
ISBN:
9780340809709(13位)
中图分类号:
R5
杜威分类号:
中文译名:
新陈代谢疾病用图,第二版
作者:
William L Nyhan, Bruce A Barshop and Pinar T Ozand
编者:
语种:
English
出版信息
出版社:
Hodder Arnold
出版地:
出版年:
2005
版本:
1
版本类型:
原版
丛书题名:
卷期:
文献信息
关键词:
前言:
摘要:
内容简介:
DESCRIPTION: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
目次:
Part 1: Organic Acidemias / Introduction / Propionic Acidemia / Methylmalonic Acidemia / Methylmalonic Acidemia and Homocystinuria / Multiple carboxylase deficiency due to Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency/Biotinidase Deficiency / Isovaleric Acidemia / Glutaric Aciduria Type I / 3-Methylcrotonyl CoA Carboxylase Deficiency / 3-Methylglutaconic Aciduria / 3-Hydroxyisobutyric Aciduria / Malonic Aciduria / D-2-Hydroxyglutaric Aciduria / L-2-Hydroxyglutaric Aciduria / 2-Oxoadipic Aciduria / 4-Hydroxybutyric Aciduria / Mitochondrial acetoacetyl-CoA thiolase (3 oxothiolase) Deficiency / Part 2: Disorders of Amino Acid Metabolism / Albinism / Alkaptonuria / Phenylketonuria (PKU) / Hyperphenylalaninemia and Defective Metabolism of Tetrahydrobiopterin / Homocystinuria / Homocystinuria due to n(5,10)-methylenetetrahydrofolate reductase / Maple Syrup Urine Disease / Oculocutaneous Tyrosinemia / Hepatorenal Tyrosinemia / Nonketotic Hyperglycinemia / Part 3: Hyperammonemia and Disorders of the Urea Cycle / Introduction / Ornithine Transcarbamylase Deficiency / Carbamyl phosphate Synthetase Deficiency / Citrullinemia / Argininosuccinic Acidemia / Argininemia / HHH Syndrome / Lysinuric Protein Intolerance / Part 4: Disorders of Fatty Acid Oxidation / Introduction / Carnitine Transporter Deficiency / Carnitine Translocase Deficiency / Carnitine Palmitoyl Transferase I Deficiency / MCAD Deficiency / VLCAD Deficiency / LCHAD Deficiency / SCAD Deficiency / SCHAD Deficiency / Multiple Acyl CoA Dehydrogenase Deficiency / 3-Hydroxy-3-Methylglutaric CoA Lyase Deficiency / Part 5: The Lactic Acidemias and Mitochondrial Disease / Introduction / Pyruvate Carboxylase Deficiency / Fructose 1, 6-diphosphatase Deficiency / PDHC Deficiency / Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases / MELAS / MERRF / NARP / Kearns Sayre syndrome / Pearson syndrome / Mitochondrial DNA Depletion Syndromes / Part 6: Disorders of Carbohydrate Metabolism / Galactosemia / Glycogen storage disease: An Introduction / Glycogenosis Type I / Glycogenosis Type II / Glycogenosis Type III / Part 7: Peroxisomal Disorders / Adrenoleukodystrophy / Neonatal Adrenoleukodystrophy / Part 8: Disorders of Purine Metabolism / Lesch-Nyhan Disease and non-Lesch-Nyhan variants of HPRT / PRPP Synthetase Abnormalities / Adenosine Deaminase Deficiency / Adenylsuccinate Lyase Deficiency / Part 9: Disorders of Transport and Mineral Metabolism / Cystinuria / Cystinosis / Hartnup Disease / Histidinuria / Menkes Disease / Wilson Disease / Part 10: Mucopolysaccharidoses / Introduction to Mucopolysaccharidosis / Hurler Disease / Scheie and Hurler-Scheie diseases / Hunter Disease / Sanfilippo Disease / Morquio Disease / Maroteaux-Lamy Disease / Sly disease / Part 11: Mucolipidoses / I Cell Disease, mucolipidoses II / Mucolipidosis III / Part 12: Disorders of Cholesterol and Neutral Lipid Metabolism / Familial Hypercholesterolemia / Mevalonic Aciduria / Lipoprotein Lipase Deficiency / Part 13: Lipid Storage Disorders / Fabry Disease / GM1 Gangliosidosis / Tay-Sachs Disease / Sandhoff Disease / GM2 Activator Deficiency / Gaucher Disease / Niemann-Pick Disease / Niemann-Pick Type C / Krabbe Disease / Wolman Disease / Fucosidosis / alpha-Mannosidosis / Galactosialidosis / Metachromatic Leukodystrophy / Multiple Sulfatase Deficiency / Part 14: Miscellaneous / Congenital Disorder of Glycosylation – Ia / Other forms of Congenital Disorders of Glycosylation / alpha-1 Antitrypsin Deficiency / Canavan Disease / Glutamyl-ribose-5-phosphate Storage Disease / Ethylmalonic encephalopathy / Disorders of Creatine Metabolism / Sanjad-Sakati Syndrome / Al-Aqeel Sewairi Syndrome / Adenine Phosphoribosyl-transferase Deficiency
附录:
全文链接:
读者对象:
实体信息
页码:
736
装帧:
HB
尺寸:
其它形态细节:
100 b&w half tone, 580 colour halftone & 175 colour line art
其它信息
原价:
GBP
150.0000
原版ISBN:
其它ISBN:
图书特色:
书评:
扩展信息
Isbn:
0340809701
issue:
2006JC01
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