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

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 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 Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation.

1980 ◽  
Vol 77 (11) ◽  
pp. 6822-6826 ◽  
Author(s):  
H. Kresse ◽  
E. Paschke ◽  
K. von Figura ◽  
W. Gilberg ◽  
W. Fuchs
Keyword(s):  
Heparan Sulfate ◽  
Disease Type ◽  
Type D ◽  
Sanfilippo Disease

Sanfilippo Disease, Type A with some Features of Ceroid Lipofuscinosis

1985 ◽  
Vol 16 (02) ◽  
pp. 98-105 ◽  
Author(s):  
K. Wisniewski ◽  
R. Rudelli ◽  
M. Laure-Kamionowska ◽  
S. Sklower ◽  
G. Houck ◽  
...  
Keyword(s):  
Type A ◽  
Disease Type ◽  
Ceroid Lipofuscinosis ◽  
Sanfilippo Disease

Sanfilippo Disease Type B: Enzyme Replacement and Metabolic Correction in Cultured Fibroblasts

Science ◽  
1973 ◽  
Vol 181 (4101) ◽  
pp. 753-755 ◽  
Author(s):  
J. S. O'Brien ◽  
A. L. Miller ◽  
A. W. Loverde ◽  
M. L. Veath
Keyword(s):  
Disease Type ◽  
Type B ◽  
Cultured Fibroblasts ◽  
Enzyme Replacement ◽  
Sanfilippo Disease ◽  
Metabolic Correction

SANFILIPPO DISEASE, TYPE A WITH SOME FEATURES OF CEROID LIPOFUSCINOSIS

1982 ◽  
Vol 41 (3) ◽  
pp. 345 ◽  
Author(s):  
K. WISNIEWSKI ◽  
R. RUDELLI ◽  
S. SKLOWER ◽  
F. KIERAS ◽  
P. RAMOS ◽  
...  
Keyword(s):  
Type A ◽  
Disease Type ◽  
Ceroid Lipofuscinosis ◽  
Sanfilippo Disease

SCREENING FOR SANFILIPPO DISEASE TYPE A BY INFRARED SPECTROSCOPY OF HAIR

The Lancet ◽  
1985 ◽  
Vol 325 (8427) ◽  
pp. 526-527
Author(s):  
G. Lubec ◽  
A.D. Patrick ◽  
G. Nauer ◽  
Jean Mossman
Keyword(s):  
Infrared Spectroscopy ◽  
Type A ◽  
Disease Type ◽  
Sanfilippo Disease

A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A)

1990 ◽  
Vol 187 (2) ◽  
pp. 131-139 ◽  
Author(s):  
O.P. van Diggelen ◽  
H. Zhao ◽  
W.J. Kleijer ◽  
H.C. Janse ◽  
B.J.H.M. Poorthuis ◽  
...  
Keyword(s):  
Enzyme Assay ◽  
Type A ◽  
Disease Type ◽  
Morquio Disease ◽  
Mps Iv A

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
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