The Metabolic and molecular bases of inherited disease

書誌事項

The Metabolic and molecular bases of inherited disease

editors, Charles R. Scriver ... [et al.]

McGraw-Hill, c2001

8th ed

  • : set
  • v. 1
  • v. 2
  • v. 3
  • v. 4

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注記

Includes bibliographical references

内容説明・目次

内容説明

First published in 1960, "MMBID" continues as the most comprehensive reference for all clinicians and investigators in human genetics. According to Dr. Scriver, the 8th edition heralds the opening of the era of functional genomics and those forms of genetic disease, with metabolic and known molecular explanations. The growth in the physical size and scope of this text is a reflection of the expansion in the knowledge base. This edition features 255 chapters, an increase of 101 chapters from the last edition, and 6000 pages written by the leading experts for each condition.

目次

I. INTRODUCTIONII.PERSPECTIVESIII. GENERAL THEMESIV.CANCERV. CHROMOSOMESVI.DIAGNOSTIC APPROACHESVII. CARBOHYDRATESVIII. AMINO ACIDSIX.ORGANIC ACIDSX. DISORDERS OF MITOCHONDRIAL FUNCTIONXI.PURINES AND PYRIMIDINESXII. LIPIDSXIII. PORPHYRINS XIV. METALSXV.PEROXISOMESXVI. LYSOSOMAL DISORDERSXVII. VITAMINSXVIII. HORMONESXIX. BLOODXX.IMMUNE AND DEFENSE SYSTEMSXXI. MEMBRANE TRANSPORT DISORDERSXXII. CONNECTIVE TISSUEXXIII. CARDIOVASCULAR SYSTEMXXIV. KIDNEYXXV. MUSCLEXXVI. LUNGXXVII. SKINXXVIII. NEUROGENETICSXXIX. EYEXXX. MULTISYSTEM INBORN ERRORS OF DEVELOPMENT

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