Disease Information for Liver Phosphorylase deficiency

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Clinical Manifestations
Signs & Symptoms
Fasting intolerant
Disease Progression
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Diagnostic Test Results
CT Scan
CT/Liver High Density/ABD
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Liver involvement/disorder (ex)
CLASS/Liver/gallbladder/ducts (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Synonyms
Synonym
deficiency hepatophosphorylase, deficiency liver phosphorylase, Disease Hers, Disease Hers', GLYCOGEN STORAGE DIS VI, Glycogen storage disease type VI, Glycogen storage disease type VI (disorder), Glycogen storage disease VI, GLYCOGENOSIS 06, Glycogenosis 6, Glycogenosis type VI, Glycogenosis VI, GSD VI, Hepatic glycog phosphoryl def, Hepatic glycogen phosphorylase deficiency, Hepatic glycogen phosphorylase deficiency (disorder), Hepatic phosphorylase deficiency, hepatophosphorylase deficiency, hepatophosphorylase deficiency glycogenosis, HEPATOPHOSPORYLASE DEFICIENCY GLYCOGENOSIS, Her Disease, Hers, HERS DIS, Hers Disease, Her's disease, Hers' disease, Hers glycogenosis, LIVER PHOSPHORYLASE DEFICIENCY, Liver phosphorylase deficiency syndrome, Type VI Glycogenosis, Synonym/GSD VI/Glycogen storage disease VI
Definition

A hepatic GLYCOGEN STORAGE DISEASE in which there is an apparent deficiency of hepatic phosphorylase (GLYCOGEN PHOSPHORYLASE, LIVER FORM) activity.

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External Links Related to Liver Phosphorylase deficiency
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Wikipedia
Merck
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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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