scholarly journals Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

2006 ◽  
Vol 79 (4) ◽  
pp. 738-744 ◽  
Author(s):  
Xiaolian Fan ◽  
Huiwen Zhang ◽  
Sunqu Zhang ◽  
Richard D. Bagshaw ◽  
Michael B. Tropak ◽  
...  
Keyword(s):  
Disease Type ◽  
Gene Encoding ◽  
Type C ◽  
Sanfilippo Disease ◽  
Enzyme Deficient

7 Identification of the gene encoding the enzyme deficient in MPS IIIC (Sanfilippo disease type C)

2007 ◽  
Vol 92 (4) ◽  
pp. 12-13
Author(s):  
Xiaolian Fan ◽  
Huiwen Zhang ◽  
Sunqu Zhang ◽  
Richard Bagshaw ◽  
Michael Tropak ◽  
...  
Keyword(s):  
Disease Type ◽  
Gene Encoding ◽  
Type C ◽  
Sanfilippo Disease ◽  
Enzyme Deficient

Prenatal diagnosis of sanfilippo disease type C using a simple fluorometric enzyme assay

1994 ◽  
Vol 14 (1) ◽  
pp. 17-22 ◽  
Author(s):  
Wang He ◽  
Ya. V. Voznyi ◽  
J. G. M. Huijmans ◽  
G. C. Geilen ◽  
E. A. Karpova ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Enzyme Assay ◽  
Disease Type ◽  
Type C ◽  
Sanfilippo Disease

Sanfilippo Disease, Type C: Three Cases in the Same Family

1989 ◽  
Vol 20 (02) ◽  
pp. 90-92 ◽  
Author(s):  
I. Turki ◽  
H. Kresse ◽  
J. Scotto ◽  
M. Tardieu
Keyword(s):  
Disease Type ◽  
Type C ◽  
Sanfilippo Disease

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Tay ◽  
X He ◽  
AM Jenner ◽  
BS Wong ◽  
WY Ong
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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