Clinical Resources by Topic: Metabolic Disorders

Scheie Syndrome Clinical Resources

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• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Medical 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 - Medical Library subscription ( INFO )
  • 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 - Medical 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 - Medical Library subscription ( INFO )
  • Part XXII - Rheumatic Diseases: Access document
    • Chapter 276 - Inherited Diseases of Connective Tissue: Access document
      • Mucopolysaccharidoses: Access document
      • Future Directions: Access document
      • Grade A: Access document
      • Suggested Readings: Access document
• Other MD Consult Reference Books: Table of contents - Medical Library subscription ( INFO )
  • All MD Consult Reference Books for
• Wheeless' Textbook of Orthopaedics: Table of contents
  • Mucopolysaccharidoses: Access document
• Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents
  • Mucopolysaccharidosis (MPS) I: Access document

Pediatrics Resources   See also General Pediatrics Resources

• Behrman: Nelson Textbook of Pediatrics 17th Ed.-2004 (MD Consult): Table of contents - Medical Library subscription ( INFO )
  • Part 10 - Metabolic Diseases
    • Chapter 73 - An Approach to Inborn Errors of Metabolism: Access document
    • Chapter 77 - Mucopolysaccharidoses: Access document
• Pediatrics (eMedicine): Table of contents
  • Mucopolysaccharidosis Type IS: Access document
• Dermatology (eMedicine): Table of contents
  • Mucopolysaccharidoses Types I-VII: Access document
• Orthopedic Surgery (eMedicine): Table of contents
  • Mucopolysaccharidoses: Access document

Radiology Resources   See also General Radiology Resources

• CHORUS-Collaborative Hypertext of Radiology: Homepage
  • Musculoskeletal System: List of documents
    • Mucopolysaccharidoses: Access document
    • Posterior Vertebral Scalloping: Access document

Pathology Resources

• Hoffman: Hematology: Basic Principles and Practice 4th Ed.-2005 (MD Consult): Table of contents - Medical 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 - Medical 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
  • Scheie Syndrome: 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
    • Mucopolysaccharidoses: 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 - Medical Library subscription ( INFO )
  • Today in Medicine: Table of content (scroll down to Endocrinology and Metabolism)

• YAHOO - Health:Diseases and Conditions:Mucopolysaccharidosis (MPS)
  Additional Mucopolysaccharidosis 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.)