Inherited Metabolic Diseases A Clinical Approach /
The ? eld of inherited metabolic diseases has changed from a limited group of rare, untreatable, often fatal disorders to an important cause of acutely life-threatening but increasingly treatable illness. Unchanged is the orphan nature of these disorders with mostly relatively nonspeci? c initial cl...
| Συγγραφή απο Οργανισμό/Αρχή: | |
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| Άλλοι συγγραφείς: | , , |
| Μορφή: | Ηλεκτρονική πηγή Ηλ. βιβλίο |
| Γλώσσα: | English |
| Έκδοση: |
Berlin, Heidelberg :
Springer Berlin Heidelberg : Imprint: Springer,
2010.
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| Θέματα: | |
| Διαθέσιμο Online: | Full Text via HEAL-Link |
Πίνακας περιεχομένων:
- to Inborn Errors of Metabolism
- Disorders of Intermediary Metabolism
- Disorders of the Biosynthesis and Breakdown of Complex Molecules
- Neurotransmitter Defects and Related Disorders
- Approach to the Patient with Metabolic Disease
- When to Suspect Metabolic Disease
- Metabolic Emergencies
- Metabolic Emergencies
- Metabolic Emergencies
- Metabolic Emergencies
- Metabolic Emergencies
- Metabolic Emergencies
- Metabolic Emergencies
- Metabolic Emergencies
- Patient Care and Treatment
- Anesthesia and Metabolic Disease
- Organ Systems in Metabolic Disease
- Approach to the Patient with Cardiovascular Disease
- Liver Disease
- Gastrointestinal and General Abdominal Symptoms
- Kidney Disease and Electrolyte Disturbances
- Neurological Disease
- Metabolic Myopathies
- Psychiatric Disease
- Eye Disorders
- Skin and Hair Disorders
- Physical Abnormalities in Metabolic Diseases
- Hematological Disorders
- Immunological Problems
- Investigations for Metabolic Diseases
- Newborn Screening for Inherited Metabolic Disease
- Biochemical Studies
- Enzymes, Metabolic Pathways, Flux Control Analysis, and the Enzymology of Specific Groups of Inherited Metabolic Diseases
- DNA Studies
- Pathology — Biopsy
- Suspected Mitochondrial Disorder
- Postmortem Investigations
- Function Tests
- Family Issues, Carrier Tests, and Prenatal Diagnosis.
