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Table 1 Clinical details and demographic profile of the adult patients with type I Gaucher disease

From: Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Patient ID P1 P2 P3 P5 P6 P7
Age at the time of investigation (in years) 20 20 26 25 28 40
Sex M F F M F F
Region GJ GJ GJ PB UP MH
Symptoms
 Deep superficial reflexes      +  
 Edema (Pelvis)     +   
 Heaviness in abdomen     +   
 Generalized weakness       +
 Splenomegaly + + + + + +
 Hepatomegaly +   + +   
Hematological abnormalities
 Anemia + +    + +
 Thrombocytopenia +    + + +
 Cytopenia +      
 Vacuolated lymphocytes      +  
 Bone marrow analysis (presence of Gaucher cells) +    + + +
Bone abnormalities
 Difficulty in walking +      
 Avascular necrosis (left femur) +      
 Enzyme Replacement Therapy     + +  
  1. Abbreviation: F Female, GJ Gujarat, MH Maharashtra, M Male, PB Punjab, UP Uttar Pradesh
  2. Clinical history of the patient P4 is unavailable