Disease Information for Enzyme defect/deficiency disorders

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Clinical Manifestations
Signs & Symptoms
Episodic vomiting
Fasting intolerant
Weight loss in Children
Infant Seizures
Seizures Newborn
Seizures/Children/recurrent
Weight Loss
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Amish population
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Children/all
Population/Neonate-newborn
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Diagnostic Test Results
Pathology
PATH/Tissue biopsy/Enzyme assay abnormal
Associated Diseases & Rule outs
Disease Synergy - Causes
Synergy/Specific Diet Items
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Group/by process (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
Definition
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External Links Related to Enzyme defect/deficiency disorders
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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