Clinical Resources by Topic: Metabolic Disorders

Refsum Disease Clinical Resources

Pediatrics | Genetics | Clinical Guidelines | Clinical Trials | Miscellaneous Resources

• Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document
    • Introduction: Access document
    • Leukodystrophies: Access document
    • Other Lipidoses: Access document
    • Reviews and Selected Updates: Access document
    • References: Access document
• Ferri: Ferri's Clinical Advisor: Instant Diagnosis and Treatment-2006 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Section III - Clinical Algorithms: Access document
    • Developmental Delay: Access document
• Goldman: Cecil Textbook of Medicine 22nd Ed.-2004 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Part VI - Genetics: Access document
    • Chapter 37 - Inborn Errors of Metabolism: Access document
      • Introduction: Access document
      • Treatment of Inherited Disease: Access document
      • Suggested Readings: Access document
• MD Consult Reference Books: Table of contents - Health Sciences Library subscription ( INFO )
  • All MD Consult Reference Books for
• The Merck Manual 17th Ed.-1999: Table of contents
  • Chapter 16, Hypolipidemia and the Lipidoses: Table of contents
    • Lipidoses: Access document
      • Refsum's Disease: Access document
• Dermatology (eMedicine): Table of contents
  • Refsum Disease: Access document
• Neurology (eMedicine): Table of contents
  • Diseases of Tetrapyrrole Metabolism: Refsum Disease and the Hepatic Porphyrias: Access document
  • Peroxisomal Disorders: Access document
  • Ataxia with Identified Genetic and Biochemical Defects: Access document
  • Inherited Metabolic Disorders: Access document

Pediatrics Resources   See also General Pediatrics Resources

• Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Part 10 - Metabolic Diseases
    • Chapter 73 - An Approach to Inborn Errors of Metabolism: Access document
    • Chapter 75 - Defects in Metabolism of Lipids: Access document
      • Disorders of Very Long Chain Fatty Acids: Access document
  • Part 27 - Neuromuscular Disorders
    • Chapter 598 - Evaluation and Investigation: Access document
    • Chapter 604 - Hereditary Motor-Sensory Neuropathies: Access document
      • Refsum Disease: Access document
• Dermatology (eMedicine): Table of contents
  • Refsum Disease: Access document
• Neurology (eMedicine): Table of contents
  • Peroxisomal Disorders: Access document

Genetics Resources   See also General Genetics Resources

• Online Mendelian Inheritance in Man: Homepage
  • Refsum Disease: Access document
  • Refsum Disease, Infantile Form: Access document

Clinical Guidelines

• National Guideline Clearinghouse: MeSH browse | Detailed search
  • Metabolism, Inborn Errors (MeSH browse): List of documents

Clinical Trials

• ClinicalTrials.gov: Homepage
  • Nutritional and Metabolic Diseases Trials: Table of contents
    • Refsum Disease: List of documents
• YAHOO - Health:Medicine:Clinical Trials
  Additional Clinical Trials resources (These sites have not been reviewed.)

• YAHOO - Health:Diseases and Conditions:Metabolic Diseases
  Additional Metabolic Diseases resources (These sites have not been reviewed.)
• YAHOO - Health:Diseases and Conditions:Genetic Disorders
  Additional Genetic Disorders resources (These sites have not been reviewed.)
• YAHOO - Science:Biology:Genetics
  Additional Genetics resources (These sites have not been reviewed.)