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

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

Prenatal diagnosis of morquio's disease type a (n-acetylgalactosamine 6-sulphate sulphatase deficiency)

1982 ◽  
Vol 2 (1) ◽  
pp. 67-69 ◽  
Author(s):  
Kurt Von Figura ◽  
J. J. Van De Kamp ◽  
Martinus F. Niermeijer
Keyword(s):  
Prenatal Diagnosis ◽  
Type A ◽  
Disease Type

First-trimester diagnosis of Morquio disease type A

2000 ◽  
Vol 20 (3) ◽  
pp. 183-185 ◽  
Author(s):  
W. J. Kleijer ◽  
G. C. Geilen ◽  
V. Garritsen ◽  
J. G. M. Huijmans ◽  
F. J. Los ◽  
...  
Keyword(s):  
Type A ◽  
First Trimester ◽  
Disease Type ◽  
Morquio Disease

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 PARTIAL DEFICIENCY OF GLYCOPROTEIN NEURAMINIDASE IN SOME PATIENTS WITH MORQUIO DISEASE TYPE A

1984 ◽  
Vol 18 (3) ◽  
pp. 302-305 ◽  
Author(s):  
Josef Glössl ◽  
Hans Kresse ◽  
Klaus Mendla ◽  
Michael Cantz ◽  
Walter Rosenkranz
Keyword(s):  
Type A ◽  
Disease Type ◽  
Morquio Disease ◽  
Partial Deficiency

Fetal presentation of morquio disease type A

1992 ◽  
Vol 12 (12) ◽  
pp. 1019-1029 ◽  
Author(s):  
Michael Beck ◽  
Susanne Braun ◽  
Wiltrud Coerdt ◽  
Eberhard Merz ◽  
Elisabeth Young ◽  
...  
Keyword(s):  
Type A ◽  
Disease Type ◽  
Morquio Disease

scholarly journals Impaired degradation of keratan sulphate by Morquio A fibroblasts

1982 ◽  
Vol 203 (1) ◽  
pp. 335-338 ◽  
Author(s):  
J Glössl ◽  
H Kresse
Keyword(s):  
Type A ◽  
Disease Type ◽  
Keratan Sulphate ◽  
Morquio A ◽  
Morquio Disease

Upon incubation of keratan [35S]sulphate with normal fibroblasts both [35S]sulphate and N-acetylglucosamine 6-[35S]sulphate are liberated. From the products obtained after digestion with various mutant fibroblasts and with purified N-acetylgalactosamine 6-sulphate sulphatase we suggest that (i) [35S]sulphate is released almost exclusively from galactose 6-sulphate residues; (ii) N-acetylgalactosamine 6-sulphate sulphatase exhibits galactose 6-sulphate sulphatase activity; (iii) both sulphatase activities are deficient in Morquio disease type A.

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
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