图书简介
The third edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, provides an invaluable insight into the problems associated with metabolic diseases. The 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. Sections within each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and include clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring.
馆藏图书馆
Harvard Library
Organic acidemias Introduction Propionic acidemia Methylmalonic acidemia Methylmalonic aciduria and homocystinuria (cobalamin C and C disease) Multiple carboxylase deficiency/holocarboxylase synthetase deficiency Multiple carboxylase deficiency/biotinidase deficiency Isovaleric acidemia Glutaric aciduria (type I) 3-Methylcrotonyl CoA carboxylase deficiency/3-methylcrotonyl glycinuria D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria 4-hydroxybutyric aciduria Mitochondrial acetoacetyl-CoA thiolase (3-oxothiolase) deficiency Disorders of amino acid metabolism Alkaptonuria Phenylketonuria Hyphenylalaninemia and defective metabolism of tetrahydrobiopterin Biogenetic amines Homocystinuria Maple syrup urine disease (branched-chain oxoaciduria) Oculocutaneous tyrosinemia/tyrosine aminotransferase deficiency Hepatorenal tyrosinemia/fumarylacetoacetate hydrolase deficiency Nonketotic hyperglycinemia Hyperammonemia and disorders of the urea cycle Introduction to hyperammonemia and disorders of the urea cycle Ornithine transcarbamylase deficiency Carbamyl phosphate synthetase deficiency Citrullinemia Argininosuccinic aciduria Argininemia Hyperornithinemia, hyperammonemia, homocitrullinuria syndrome Lysinuric protein intolerance Glutamine synthetase deficiency Disorders of fatty acid oxidation Introduction to disorders of fatty acid oxidation Carnitine transporter deficiency Carnitine: acylcarnitine translocase deficiency Carnitine palmitoyl transferase I deficiency Carnitine palmitoyl transferase II deficiency, lethal neonatal Carnitine palmitoyl transferase II deficiency, late onset Medium chain acyl CoA dehydrogenase deficiency Very long-chain acyl CoA dehydrogenase deficiency Long chain L-3-hydroxyacyl CoA dehydrogenase - (trifunctional protein deficiency) Short-chain acyl CoA dehydrogenase deficiency 3-HydroxyacylCoA dehydrogenase (short-chain 3-hydroxyacylCoA dehydrogenase) deficiency Short/branched chain acyl-CoA dehydrogenase (2-methylbutyrylCoA dehydrogenase) deficiency Multiple acyl CoA dehydrogenase deficiency/Glutaric aciduria type II/Ethylmalonic-adipic aciduria 3-Hydroxy-3-methylglutaryl CoA lyase deficiency The lactic acidemias and mitochondrial disease Introduction to the lactic acidemias Pyruvate carboxylase deficiency Fructose-1,6-diphosphatase deficiency Deficiency of the pyruvate dehydrogenase complex Lactic acidemia and defective activity of pyruvate, 2-oxoglutarate and branched chain oxoacid dehydrogenases Mitochondrial encephalomyelopathy, lactic acidosis and stroke-like episodes Myoclonic epilepsy and ragged red fiber disease Neurodegeneration, ataxia and retinitis pigmentosa Kearns-Sayre syndrome Pearson syndrome Mitochondrial DNA depletion syndromes: mitochondrial DNA polymerase deficiency Disorders of carbohydrate metabolism Galactosemia Glycogen storage diseases: introduction Glycogenosis type 1 - Von Gierke disease Glycogenosis type II/Pomple/lysosomal -glucosidase deficiency Glycogenosis type III/Amylo-1,6-glucosidase (debrancher) deficiency Peroxisomal disorders Adrenoleukodystrophy Neonatal adrenoleukodystrophy/disorders of peroxisomal biogenesis Disorders of purine metabolism Lesch-Nyhan disease and variants Adenine phosphoribosyl-transferase deficiency Phosphoribosylpyrophosphate synthetase and its abnormalities Adenosine deaminase deficiency Adenylsuccinate lyase deficiency Orotic aciduria Disorders of transport and mineral metabolism Cystinuria Cystinosis Hartnup disease Histiniduria Menkes disease Mucopolysaccharidoses Introduction to mucopolysaccharidoses Hurler disease/mucopolysaccharidosis type IH-L-iduronidase deficiency Scheie and Hurler-Scheie diseases/mucopolysaccharidosis IS and HIS/a-iduronidase deficiency Hunter disease/mucopolysaccharidosis type II/iduronate sulfatase deficiency Sanfilippo disease/mucopolysaccharidosis type III Morquio syndrome/mucopolysaccharidosis type IV/keratan sulfaturia Maroteaux-Lamy disease/mucopolysaccharidosis VI/N-acetylgalactosamine-4-sulfatase deficiency Sly disease/AY-glucuronidase deficiency/mucopolysaccharidosis VII Mucolipidoses I-cell disease/mucolipidosis II Mucolipidosis III/pseudo-Hurler polydystrophy /N-acetyl-glucosaminyl-1-phosphotransferase deficiency Disorders of cholesterol and neutral lipid metabolism Familial hypercholesterolemia Mevalonic aciduria Lipoprotein lipase deficiency/type I hyperlipoproteinemia Lipid storage disorders Fabry disease GM1 gangliosidosis/AY-galactosidase deficiency Tay-Sachs disease/hexosaminidase A deficiency Sandhoff disease/GM2 gangliosidosis/deficiency of hexosaminidase A and B/hex-B subunit deficiency GM2 activator deficiency/GM2 gangliosidosis - deficiency of the activator protein Gaucher disease Niemann-Pick disease Niemann-Pick type C disease/cholesterol-processing abnormality Krabbe disease/galactosylceramide lipidosis/globoid cell leukodystrophy Wolman disease/cholesteryl ester storage disease Fucosidosis a-Mannosidosis Galactosialidosis Metachromatic leukodystrophy Multiple sulfatase deficiency Miscellaneous Congenital disorder of glycosylation, type la Other forms of congenital disorders of glycosylation a1-Antitrypsin deficiency Canavan disease/aspartoacylase deficiency Ethylmalonic encephalopathy Disorders of creatine synthesis or transport
Trade Policy 买家须知
- 关于产品:
- ● 正版保障:本网站隶属于中国国际图书贸易集团公司,确保所有图书都是100%正版。
- ● 环保纸张:进口图书大多使用的都是环保轻型张,颜色偏黄,重量比较轻。
- ● 毛边版:即书翻页的地方,故意做成了参差不齐的样子,一般为精装版,更具收藏价值。
关于退换货:
- 由于预订产品的特殊性,采购订单正式发订后,买方不得无故取消全部或部分产品的订购。
- 由于进口图书的特殊性,发生以下情况的,请直接拒收货物,由快递返回:
- ● 外包装破损/发错货/少发货/图书外观破损/图书配件不全(例如:光盘等)
并请在工作日通过电话400-008-1110联系我们。
- 签收后,如发生以下情况,请在签收后的5个工作日内联系客服办理退换货:
- ● 缺页/错页/错印/脱线
关于发货时间:
- 一般情况下:
- ●【现货】 下单后48小时内由北京(库房)发出快递。
- ●【预订】【预售】下单后国外发货,到货时间预计5-8周左右,店铺默认中通快递,如需顺丰快递邮费到付。
- ● 需要开具发票的客户,发货时间可能在上述基础上再延后1-2个工作日(紧急发票需求,请联系010-68433105/3213);
- ● 如遇其他特殊原因,对发货时间有影响的,我们会第一时间在网站公告,敬请留意。
关于到货时间:
- 由于进口图书入境入库后,都是委托第三方快递发货,所以我们只能保证在规定时间内发出,但无法为您保证确切的到货时间。
- ● 主要城市一般2-4天
- ● 偏远地区一般4-7天
关于接听咨询电话的时间:
- 010-68433105/3213正常接听咨询电话的时间为:周一至周五上午8:30~下午5:00,周六、日及法定节假日休息,将无法接听来电,敬请谅解。
- 其它时间您也可以通过邮件联系我们:customer@readgo.cn,工作日会优先处理。
关于快递:
- ● 已付款订单:主要由中通、宅急送负责派送,订单进度查询请拨打010-68433105/3213。
本书暂无推荐
本书暂无推荐