Clinical Resources by Topic: Metabolic Disorders

Amino Acid Transport Defects Clinical Resources

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

• Harrison's Principles of Internal Medicine 16th Ed.-2005: Table of contents - Health Sciences Library subscription ( INFO )
  • Chapter 265. Tubular Disorders: Table of contents
    • Introduction: Access document
    • Selected Disorders of Amino Acid Transport: Access document
    • Further Reading: Access document
  • Chapter 344. Inherited Defects of Membrane Transport
    • Introduction: Access document
    • Cystinuria: Access document
    • Dibasic Aminoaciduria: Access document
    • Hartnup Disease: Access document
    • Further Reading: Access document

• Feldman: Sleisenger and Fordtran's Gastrointestinal and Liver Disease 7th Ed.-2002 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Chapter 65 - Inherited Metabolic Disorders of the Liver: Access document
    • Introduction: Access document
    • Bile Acid Synthesis and Transport Defects: Access document
    • References: Access document
  • Chapter 89 - Maldigestion and Malabsorption: Access document
    • Introduction: Access document
    • Etiology and Pathophysiology of Malabsorption Syndromes: Access document
    • Clinical Presentation and Evaluation of Malabsorption and Maldigestion: Access document
    • Anatomic Investigations: Access document
    • Noninvasive Evaluation of Gastrointestinal Absorptive and Digestive Function: Access document
    • Malabsorption in Specific Disease States: Access document
    • General Approach to the Management of Malabsorption: Access document
    • References: Access document
• Brenner and Rector's The Kidney 7th Ed.-2004 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Chapter 36 - Inherited Disorders of the Renal Tubule: Access document
    • Introduction: Access document
    • Inherited Disorders of Renal Amino Acid Transport: Access document
      • Cystinuria: Access document
      • Lysinuric Protein Intolerance: Access document
      • Hartnup Disease: Access document
      • Iminoglycinuria: Access document
• Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Chapter 31 - Aminoacidopathies and Organic Acidopathies, Mitochondrial Enzyme Defects, and Other Metabolic Errors: Access document
    • Introduction: Access document
    • Other Metabolic Disorders: Access document
    • Reviews and Selected Updates: Access document
    • References: 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
  • Part XVI - Metabolic Diseases: Access document
    • Chapter 221 - Branched Chain Aminoacidurias: Access document
      • Maple Syrup Urine Disease: Access document
      • Isovaleric Acidemia: Access document
      • Suggested Readings: Access document
• Other MD Consult Reference Books: Table of contents - Health Sciences Library subscription ( INFO )
  • All MD Consult Reference Books for
• Medicine, Ob/Gyn, Psychiatry, and Surgery (eMedicine): Table of contents
  • Cystinuria: Access document
• Neurology (eMedicine): Table of contents
  • Inherited Metabolic Disorders: Access document
  • Hyperammonemia: Access document
  • Ataxia with Identified Genetic and Biochemical Defects: Access document

Pediatrics Resources   See also General Pediatrics Resources

• The Merck Manual 17th Ed.-1999: Table of contents
  • Chapter 261: Congenital Anomalies: Table of contents
    • General: Access document
    • Anomalies in Kidney Transport: Access document
• Emergency Medicine (eMedicine): Table of contents
  • Pediatrics, Inborn Errors of Metabolism: Access document
• Pediatrics (eMedicine): Table of contents
  • Fanconi Syndrome: Access document
  • Hyperammonemia: Access document
  • Hyperammonemia-hyperornithinemia-homocitrullinemia Syndrome: Access document
• Dermatology (eMedicine): Table of contents
  • Hartnup Disease: Access document

Pathology Resources

• Henry: Clinical Diagnosis and Management by Laboratory Methods, 20th Ed.-2001 (MD Consult): Table of contents - Health Sciences Library subscription ( INFO )
  • Part II - Clinical Chemistry: Access document
    • Chapter 10 - Metabolic Intermediates, Inorganic Ions and Biochemical Markers of Bone Metabolism: Access document
      • Nonprotein Nitrogenous Compounds: Access document
      • References: Access document

Genetics Resources   See also General Genetics Resources

• Online Mendelian Inheritance in Man: Homepage
  • Cystinuria Type I: Access document
  • Cystinuria Type III: Access document
  • Hartnup Disease: Access document
  • Hyperammonemia-Hyperornithinemia-Homocitrullinuria (HHH) Syndrome: Access document

Clinical Guidelines

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

News Resources

• Doctor's Guide to the Internet: Homepage
  • Nutrition/DieteticsNews: List of documents
    • Amino Acid (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.)