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
1990 ◽  
Vol 10 (2) ◽  
pp. 85-91 ◽  
Author(s):  
H. Zhao ◽  
O. P. Van Diggelen ◽  
R. Thoomes ◽  
J. Huumans ◽  
E. Young ◽  
...  

The Lancet ◽  
1977 ◽  
Vol 310 (8029) ◽  
pp. 144 ◽  
Author(s):  
A.D. Patrick ◽  
Elisabeth Young ◽  
W.J. Kleijer ◽  
M.F. Niermeijer

1985 ◽  
Vol 16 (02) ◽  
pp. 98-105 ◽  
Author(s):  
K. Wisniewski ◽  
R. Rudelli ◽  
M. Laure-Kamionowska ◽  
S. Sklower ◽  
G. Houck ◽  
...  

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Andrea Colli ◽  
Laura Besola ◽  
Lorenzo Bagozzi ◽  
Erica Manzan ◽  
Eleonora Bizzotto ◽  
...  

Introduction: TOP-MINI is a new micro invasive surgical procedure to treat degenerative mitral valve regurgitation due to flail/prolapse. Hypothesis: This prospective single centre study sought to assess the safety and effectiveness of the TOP-MINI procedure up to one year follow-up. Methods: Clinical and Echocardiographic outcomes were evaluated at 1, 3, 6 months and 1 year follow-up for all patients underwent TOP-MINI procedure from November 2013 to March 2015. Procedural success was defined as residual MR≤2+ at any time. Results: Sixty-one patients were treated during study period. One year survival was 96.7±2.3%. Freedom from MR>2+ is shown in figure 1 Panel A, Freedom from MR>2+ according to valve anatomy (Type A isolated P2 disease, Type B posterior multisegment disease, Type C anterior or bileaflet and/or calcified disease) is shown in Figure 1 Panel B. Freedom from MR>2+ according to STS risk profile is shown in Figure 2. The trend of Echocardiographic parameters is shown in Figure 3. Conclusions: TOP-MINI is a safe and effective procedure at 1 year FU. Residual MR is influenced by valve anatomy showing good results in Type A and B patients. Future techniques refinements are needed in order to improve outcomes of Type C patients. The lack of annuloplasty procedure does not influence negatively left ventricle reverse remodeling.


1977 ◽  
Vol 1 (2) ◽  
pp. 229-239 ◽  
Author(s):  
Pierre Daloze ◽  
Edgard E. Delvin ◽  
Francis H. Glorieux ◽  
Jacques L. Corman ◽  
Paul Bettez ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document