Clinical Resources by Topic: Metabolic Disorders

Tay-Sachs Disease Clinical Resources

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

• Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents - Lewis Library subscription ( INFO )
  • Chapter 340. Lysosomal Storage Diseases: Table of contents
    • Introduction: Access document
    • Pathogenesis of Lysosomal Storage Diseases: Access document
    • Selected Disorders: Access document
    • Further Reading: Access document
  • Chapter 353. Amyotrophic Lateral Sclerosis and Other Motor Neuron Diseases: Table of contents
    • Selected Lower Motor Neuron Disorders: Access document
    • Web Sites: Access document
    • Further Reading: Access document
• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Lewis 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
• Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents - Lewis Library subscription ( INFO )
  • Chapter 3 - Mood, Emotion, and Thought: Access document
    • History and Definitions: Access document
    • Clinical History: Access document
    • Anatomy of Mood, Emotion, and Thought: Access document
    • Examination of Mood, Emotion, and Thought: Access document
    • Evaluation Guidelines: Access document
    • Clinical Syndromes: Access document
    • General Management Goals: Access document
    • Reviews and Selected Updates: Access document
    • References: Access document
  • Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document
    • Introduction: Access document
    • 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 - Lewis Library subscription ( INFO )
  • Section III - Clinical Algorithms: Access document
    • Developmental Delay: Access document
• Other MD Consult Reference Books: Table of contents - Lewis Library subscription ( INFO )
  • All MD Consult Reference Books for
• Neurology (eMedicine): Table of contents
  • Inherited Metabolic Disorders: Access document
• Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents
  • Gagliosidosis GM1, Type I : Access document

Pediatrics Resources   See also General Pediatrics Resources

• Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult): Table of contents - Lewis 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
      • Lipidoses: Access document
  • Part 26 - The Nervous System
    • Chapter 584 - Neurologic Evaluation: Access document
    • Chapter 592 - Neurodegenerative Disorders of Childhood: Access document
      • Introduction: Access document
• Pediatrics (eMedicine): Table of contents
  • Lipid Storage Disorders: Access document

Pathology Resources

• Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents - Lewis Library subscription ( INFO )
  • Chapter 340. Lysosomal Storage Diseases: Table of contents
    • Pathogenesis of Lysosomal Storage Diseases: Access document
• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Lewis 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
• eAtlas of Pathology (Univ of Connecticut): Table of contents
  • Diseases of Spine: List of documents
    • Tay Sachs Disease: Access document
    • Tay Sachs Disease: Access document
    • Tay Sachs Disease: Access document

Genetics Resources   See also General Genetics Resources

• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Lewis 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
• GeneClinics: Homepage
  • Hexosaminidase A Deficiency: Access document
• Online Mendelian Inheritance in Man: Homepage
  • Tay-Sachs Disease: Access document
  • Tay-Sachs Disease, AB Variant: 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.)

Miscellaneous Tay-Sachs Disease Clinical Resources

• 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.)