Inherited Metabolic Diseases : A Clinical Approach

This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment pr...

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Bibliographic Details
Corporate Author SpringerLink (Online service)
Other Authors Hoffmann, Georg F. (Editor), Zschocke, Johannes (Editor), Nyhan, William L. (Editor)
Format Electronic eBook
LanguageEnglish
Published Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2017.
Edition2nd ed. 2017.
Subjects
Medicine.
Human genetics.
General practice (Medicine).
Internal medicine.
Neurology.
Pathology.
Pediatrics.
elektronické knihy
electronic books
Online AccessFull text
ISBN9783662494103
DOI10.1007/978-3-662-49410-3
Physical DescriptionXVII, 605 p. 80 illus., 34 illus. in color. online resource.

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Table of Contents:
  • 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.

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