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* Glycogen S diseases
 #136513  
  kashmala - 11/08/06 02:28
 
  A 35-year-old man presents with numbness in his hands and feet and episodes of fever accompanied by extreme pain. On examination, he has multiple reddish-purple angiokeratomata. A urine sample is positive for protein. His brother, a maternal uncle, and two male cousins have had similar symptoms. A biopsy reveals lamellar deposits in numerous cells in the kidney and other tissues. If enzyme replacement therapy is begun, which of the following enzymes should be used?
A. รก-Galactosidase
B. Golgi-associated phosphotransferase
C. Glucocerebrosidase
D. Hexosaminidase A
E. Sphingomyelinase
 
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* Re:Glycogen S diseases
#548539
  frodo - 11/08/06 02:33
 
  a...?fabry's disease  
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* Re:Glycogen S diseases
#548542
  student2000 - 11/08/06 02:36
 
  A..  
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* Re:Glycogen S diseases
#548561
  step1_ca - 11/08/06 03:13
 
  aa  
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* Re:Glycogen S diseases
#548645
  drvirgo - 11/08/06 08:13
 
  A-fabry's.  
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* Re:Glycogen S diseases
#548679
  vl2ss - 11/08/06 08:44
 
  AA  
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* Re:Glycogen S diseases
#548692
  pmle - 11/08/06 08:55
 
  yes A,,,fabry's disease,,,,but its Lysosomal storage not glycogen storage disease  
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* Re:Glycogen S diseases
#549705
  kashmala - 11/08/06 18:00
 
  yes ist A  
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* Re:Glycogen S diseases
#551632
  lungi - 11/09/06 18:17
 
  Answer is A :: alpha galactosidase A deficiency. X linked recessive disorder. No male to male transmission. Majority of the patients are male. Other name of the enzyme is Ceramide trihexosidase. Common symptoms are buring sensation in hands and palms worsen by exercise and hot weather. Multiple reddish purple angiokeratomata....Corneal claudication is also a very common symptom  
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