Inherited Metabolic Diseases A Clinical Approach /
The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. Inherited Metabolic Disease A Clinical Approach is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible a...
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| Other Authors: | , , |
| Format: | Electronic |
| Language: | English |
| Published: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2010.
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| Subjects: | |
| Online Access: | https://ezaccess.library.uitm.edu.my/login?url=http://dx.doi.org/10.1007/978-3-540-74723-9 |
Table of Contents:
- Introduction to Inborn Errors of Metabolism
- Disorders of Intermediary Metabolism
- Disorders of the Biosynthesis and Breakdown of Complex Molecules
- Neurotransmitter Defects and Related Disorders
- Other Inborn Errors of Metabolism
- Approach to the Patient with Metabolic Disease
- Pathological Neonatal Screening Results
- Metabolic Emergencies
- Cardiovascular Abnormalities
- Hepatic Abnormalities
- Gastrointestinal and General Abdominal Symptoms
- Renal and Electrolyte Disturbances
- Neurological Symptoms
- Myopathies
- Psychiatric Problems
- Eye Disorders
- Skin and Hair Disorders
- Sceletal Abnormalities
- Congenital Malformations
- Hematological Abnormalities
- Immunological Problems
- Peculiar Odour
- Investigations for Metabolic Disease
- Biochemical Studies
- Enzyme Studies
- DNA Studies
- Function Tests
- Other Investigations
- Postmodern Investigations
- Work-up for an Unclassified Multisystem Disease
- Work-up for a Possible Mitochondrial Disorder
- Indications for Lumbar Puncture
- Prenatal Diagnosis
- Family Analyses - Carrier Analysis
- Appendix.