Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm Jean-Marie Saudubray,Matthias R. Baumgartner,John Book 20166th edition Springer-Verlag Gmb

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拱形大桥

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cyclepyruvate metabolism and in the TCA cycle almost invariably affect the central nervous system. The severity and the different clinical phenotypes vary widely among patients and are not always specific, the range of manifestations extending from overwhelming neonatal lactic acidosis and early death to

PATHY

Ondines-curse

Disorders of Ketogenesis and Ketolysisress. There are two defects of ketogenesis, 3-hydroxy-3-methylglutaryl (HMG)-CoA lyase deficiency and HMG-CoA synthase deficiency. In these, decompensation leads to encephalopathy, with vomiting and a reduced level of consciousness, often accompanied by hepatomegaly. The biochemical features – hypok

朋党派系

Disorders of Oxidative Phosphorylationhigh energy requiring organs. The central and peripheral nervous systems, skeletal and cardiac muscle, eyes, ears, kidneys and liver are frequently involved. Some well-characterised mitochondrial syndromes are recognised, but many patients have overlapping features not corresponding to a specific sy

伪善

Creatine Deficiency Syndromesdinoacetate methyltransferase (GAMT) (MIM 601240) deficiencies), and transport [the X-linked creatine transporter (CRTR)] (MIM 300036) deficiency. CDS typically present with cerebral creatine deficiency and global developmental delay/ intellectual disability along with various neurological manifesta

faultfinder

Andrew A. M. Morris,Ute Spiekerkoetter consequences for community structure. While my own contribu­ tion ----and the bulk of this volume --- lies in mathematical analysis of the phenomenon, I have also tried to summarize the most important natural historical aspects of these communities, and have devoted much effort to relating the math

影响深远

Andrew A. M. Morris consequences for community structure. While my own contribu­ tion ----and the bulk of this volume --- lies in mathematical analysis of the phenomenon, I have also tried to summarize the most important natural historical aspects of these communities, and have devoted much effort to relating the math

和平

处理

Sylvia Stöckler-Ipsiroglou,Saadet Mercimek-Mahmutoglu,Gajja S. Salomonsdio frequency spectrum needed to offer so-called "Third Generation" (3G) mobile services. These services include high-speed data, mobile Internet access and entertainment such as games, music and video programs. Indeed, as voice communications are substituted by data communications, software -rather