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

scholarly journals A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)

1993 ◽  
Vol 16 (6) ◽  
pp. 935-941 ◽  
Author(s):  
Wang He ◽  
Ya. V. Voznyi ◽  
A. M. Boer ◽  
W. J. Kleijer ◽  
O. P. van Diggelen
Keyword(s):  
Enzyme Assay ◽  
Disease Type ◽  
Type D ◽  
Sanfilippo Disease ◽  
Mps Iiid

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

SSCP analysis by RT-PCR for the prenatal diagnosis of Niemann-Pick disease type C

2001 ◽  
Vol 21 (1) ◽  
pp. 55-57 ◽  
Author(s):  
Hiroko Tsukamoto ◽  
Toshiyuki Yamamoto ◽  
Toshinori Nishigaki ◽  
Norio Sakai ◽  
Eiji Nanba ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Disease Type ◽  
Sscp Analysis ◽  
Rt Pcr ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

scholarly journals Prenatal diagnosis of morquio disease type a using a simple fluorometric enzyme assay

1990 ◽  
Vol 10 (2) ◽  
pp. 85-91 ◽  
Author(s):  
H. Zhao ◽  
O. P. Van Diggelen ◽  
R. Thoomes ◽  
J. Huumans ◽  
E. Young ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Enzyme Assay ◽  
Type A ◽  
Disease Type ◽  
Morquio 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

scholarly journals A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)

1996 ◽  
Vol 19 (3) ◽  
pp. 278-285 ◽  
Author(s):  
E. A. Karpova ◽  
Ya. V. Voznyi ◽  
J. L. M. Keulemans ◽  
A. T. Hoogeveen ◽  
B. Winchester ◽  
...  
Keyword(s):  
Enzyme Assay ◽  
Type A ◽  
Disease Type ◽  
Sanfilippo Disease ◽  
Mps Iiia

scholarly journals Prenatal Diagnosis of Glycogen Storage Disease Type II: Enzyme Assay or Mutation Analysis?

1995 ◽  
Vol 38 (1) ◽  
pp. 103-106 ◽  
Author(s):  
Wim J Kleijer ◽  
Magna Van Der Kraan ◽  
Marian A Kroos ◽  
Johanna E M Groener ◽  
Otto P Van Diggelen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Glycogen Storage Disease ◽  
Mutation Analysis ◽  
Enzyme Assay ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii

Prenatal diagnosis of Niemann-Pick disease type C

1992 ◽  
Vol 208 (3) ◽  
pp. 173-181 ◽  
Author(s):  
J.M. de Winter ◽  
H.C. Janse ◽  
O.P. van Diggelen ◽  
F.J. Los ◽  
F.A. Beemer ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

Prenatal diagnosis of Sanfilippo disease type B

1984 ◽  
Vol 66 (4) ◽  
pp. 287-288 ◽  
Author(s):  
W. J. Kleijer ◽  
J. G. M. Huijmans ◽  
W. Blom ◽  
D. Gorska ◽  
J. Kubalska ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Disease Type ◽  
Type B ◽  
Sanfilippo Disease
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