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* genetics 8
 #136135  
  kashmala - 11/06/06 23:16
 
  A 4-year-old child demonstrates severe neurologic de-
terioration. Examination reveals marked hepatosplenomeg-
aly, and a bone marrow biopsy shows numerous loamy
vacuolated macrophages. Which of the following tests is
likely to reveal the diagnosis of this condition?
A The number of LDL receptors on hepatocytes
B The level of sphingomyelinase in splenic macro-
phages
C The rate of synthesis of collagen
D The level of glucose-6-phosphatase in liver cells
E The level of c-antitrypsin in
 
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* Re:genetics 8
#546785
  neoplasia - 11/06/06 23:22
 
  BBBBB(NIEMANN PICK)  
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* Re:genetics 8
#546798
  cd45 - 11/06/06 23:25
 
  b..  
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* Re:genetics 8
#546802
  shawn3387 - 11/06/06 23:26
 
  b????????  
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* Re:genetics 8
#546833
  step1_ca - 11/06/06 23:37
 
  bb  
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* Re:genetics 8
#546866
  kashmala - 11/06/06 23:51
 
  B
The clinical features of this child--neurologic
involvement, hepatosplenomegaly, and accumulation of
foamy macrophages -- suggest a lysosomal storage disor-
der. One such disorder, with which the clinical history is
quite compatible, is Niemann-Pick disease type A. It is
characterized by lysosomal accumulation of sphingomyelin
due to a severe deficiency of sphingomyelinase. Reduced
numbers of LDL receptors on hepatocytes can be seen with
familial hypercholesterolemia. Collagen synthesis is im-
paired with Ehlers-Danlos syndrome. The glycogen storage
disease known as yon Gierke disease results from glucose-
6-phosphatase deficiency. Globules of a-antitrypsin are
seen in liver cells with inherited deficiency of al-anti-
trypsin.
 
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