A Clinical Approach
E-Book, Englisch, 605 Seiten, eBook
ISBN: 978-3-662-49410-3
Verlag: Springer
Format: PDF
Kopierschutz: Wasserzeichen (»Systemvoraussetzungen)
Zielgruppe
Professional/practitioner
Autoren/Hrsg.
Weitere Infos & Material
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.