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Table 1 Clinical and biological data of Patients.

From: Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

Patients AD1 AD2 AD3
   Parental consanguinity yes no
   Age of onset of symptoms 3 months 1 month 3 months
   Growth retardation    
Weight -1 SD -1 SD - 2 SD
Height Normal Normal - 2 SD
   Digestive symptoms diarrhea, abdominal distension
   Deep tendon reflexes + + +
   Hematological (Acanthocytes) < 1% Normal 5%
   Steatorrhea (g/24 hr) 2.2 4.9 2
Cholesterol (N: 1.50 - 2.80) 1.01 1.05 0.89
LDL-cholesterol (N: 0.80 - 1.50) 0.57 0.49 0.38
(g/L) HDL-cholesterol (N >0.45) 0.22 0.32 0.27
Triglycerides (N: 0.50 - 1.70) 1.10 1.20 1.20
ApoA-1 (N: 1 - 2.15) 0.70 0.90 0.50
ApoB (N: 0.55 - 1.40) 0.56 0.43 0.82
Vitamin E (N: 8 - 17 mg/L) 1.8 2.8 1
Vitamin E/Lipid (N >1.9 mg/g) 0.9 1.3 0.5
Vitamin A (N: 240 - 900 mg/L) 682 107 254
   ASAT (x ULN) 1.5 1.6 1
   ALAT (x ULN) 1 1 1
   CK (x ULN) 1.7 1.4 1.7
  1. ULN: Upper limit of normal; SD: Standard Deviation; + present in decreasing amounts; ASAT: Aspartate Amino Transferase; ALAT: Alanine Amino Transferase; CK: Creatine kinase
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