Clinical Resources by Topic: Metabolic Disorders

Aspartylglucosaminuria Clinical Resources

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

• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )

  • Part V - Host Defense and its Disorders: Access document

    • Chapter 49 - Lysosomal Storage Diseases: Perspectives and Principles: Access document
      • The Concept of the Lysosome: Access document
      • Physiology of Lysosomes: Access document
      • Pathophysiology of Lysosomal Storage Diseases: Access document
      • Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document
      • Genotype-Phenotype Correlations: Access document
      • Therapeutic Approaches and Implications: Access document
      • Results and Lessons from Therapy: Access document
      • References: Access document
• MD Consult Reference Books: Table of contents - Health Sciences Library subscription ( INFO )
  • All MD Consult Reference Books for
• Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents
  • Aspartylglucosaminuria: 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 76 - Defects in Metabolism of Carbohydrates: Access document
      • Disorders of Glycoprotein Degradation and Structure: Access document

Pathology Resources

• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )

  • Part V - Host Defense and its Disorders: Access document

    • Chapter 49 - Lysosomal Storage Diseases: Perspectives and Principles: Access document
      • The Concept of the Lysosome: Access document
      • Physiology of Lysosomes: Access document
      • Pathophysiology of Lysosomal Storage Diseases: Access document
      • Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document
      • Genotype-Phenotype Correlations: Access document

Genetics Resources   See also General Genetics Resources

• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )

  • Part V - Host Defense and its Disorders: Access document

    • Chapter 49 - Lysosomal Storage Diseases: Perspectives and Principles: Access document
      • Molecular Genetic Mechanisms of Lysosomal Storage Diseases: Access document
      • Genotype-Phenotype Correlations: Access document
• Online Mendelian Inheritance in Man: Homepage
  • Aspartylglucosaminuria: 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
    • Lysosomal Storage Diseases: List of documents
• YAHOO - Health:Medicine:Clinical Trials
  Additional Clinical Trials resources (These sites have not been reviewed.)

News Resources

• Doctor's Guide to the Internet - Nutritional News: List of documents
  • Lysosomal (Keyword search): List of documents
• MD Consult: Homepage - Health Sciences Library subscription ( INFO )
  • Today in Medicine: Table of content (scroll down to Endocrinology and Metabolism)

• 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.)