소장자료

Inherited Metabolic Diseases A Clinical Approach [electronic resource] :

  • Hoffmann, Georg F. editor. , Zschocke, Johannes. editor. , Nyhan, William L. editor.
  • 2017
Inherited Metabolic Diseases A Clinical Approach [electronic resource] :
  • 자료유형
    단행본
  • 서명/저자사항
    Inherited Metabolic Diseases[electronic resource] :A Clinical Approach / edited by Georg F. Hoffmann, Johannes Zschocke, William L. Nyhan.
  • 판차
    2nd ed. 2017.
  • 개인저자
    Hoffmann, Georg F., editor., Zschocke, Johannes., editor., Nyhan, William L., editor.
  • 단체저자
    SpringerLink (Online service)
  • 형태사항
    XVII, 605 p. 80 illus., 34 illus. in color. : online resource.
  • 내용주기
    Introduction to Inborn Errors of Metabolism: Disorders of Intermediary Metabolism -- Mitochondriopathies Neurotransmitter Defects.-Disorders of the Biosynthesis and Breakdown of Complex Molecules. Approach to the Patient: When to Suspect Metabolic Disease -- Patient Care and Treatment -- Metabolic Emergencies -- Anesthesia and Metabolic Disease -- Principles of Dietary Therapy -- Principles of Enzyme Replacement Therapy -- Principles of Gene Therapy. Organ Systems in Metabolic Disease: Cardiovascular Disease -- Liver Disease -- Gastrointestinal and General Abdominal Symptoms -- Kidney Disease and Electrolyte Disturbances -- Neurological Disease -- Metabolic Myopathies -- Psychiatric Disease -- Eye Disorder -- Skin and Hair Disorders -- Bone Disorders -- Physical Abnormalities in Metabolic Diseases -- Hematological Disorders -- Immunological Problems. Investigations for Metabolic Diseases: Newborn Screening -- Biochemical Studies -- Enzymes, Metabolic Pathways, Flux Control Analysis and the Enzymology of Specific Groups of Inherited Metabolic Diseases -- Molecular Investigations (DNA Studies) -- Pathology / Biopsy -- Postmortem Investigations -- Neuroimaging -- Function Tests -- Suspected Mitochondrial Disorder. Appendix: Differential Diagnosis of Clinical and Biochemical Phenotypes -- Reference Books -- E3 Internet Resources.
  • 일반주제명
    Medicine.
    Human genetics.
    General practice (Medicine).
    Internal medicine.
    Neurology.
    Pathology.
    Pediatrics.
    Medicine & Public Health.
    Pediatrics.
    Internal Medicine.
    General Practice / Family Medicine.
    Neurology.
    Pathology.
    Human Genetics.
  • 기본자료 저록
    Springer eBooks
  • 기타형태 저록
    Printed edition: 9783662494080
  • ISBN
    9783662494103
  • 언어
    영어