scholarly journals Mini-Review Free Sialic Acid Storage Disorder: Progress and Promise

2021 ◽  
pp. 135896
Author(s):  
Marjan Huizing ◽  
Mary E. Hackbarth ◽  
David R. Adams ◽  
Melissa Wasserstein ◽  
Marc C. Patterson ◽  
...  
2002 ◽  
Vol 26 (4) ◽  
pp. 267-273 ◽  
Author(s):  
Tarja T. Varho ◽  
Liisa E. Alajoki ◽  
Kristiina M. Posti ◽  
Tapio T. Korhonen ◽  
Martin G. Renlund ◽  
...  

2011 ◽  
Vol 158 (1) ◽  
pp. 165-165.e1 ◽  
Author(s):  
François-Guillaume Debray ◽  
Caroline Lefebvre ◽  
Stéphanie Colinet ◽  
Karin Segers ◽  
René Stevens

Author(s):  
Takayuki Fujita ◽  
Atsushi Satomura ◽  
Mutsuko Hidaka ◽  
Isao Ohsawa ◽  
Morito Endo ◽  
...  

2018 ◽  
Vol 31 (10) ◽  
pp. 1155-1159
Author(s):  
Tamara Žigman ◽  
Danijela Petković Ramadža ◽  
Mario Lušić ◽  
Marija Zekušić ◽  
Dorotea Ninković ◽  
...  

Abstract Background Infantile free sialic acid storage disease (ISSD) is a severe multisystemic disorder characterized by the accumulation of free sialic acid in lysosomes. Case presentation The patient presented prenatally with fetal ascites and large scrotal hernias, without pleural or pericardial effusion. During the infantile period, he was diagnosed with permanent isolated immunoglobulin G (IgG) hypogammaglobulinemia, which thus far has rarely been associated with ISSD. The analysis of the SLC17A5 gene revealed a novel homozygous 94 bp gene deletion. We further provide a detailed description of pre- and postnatal clinical and radiographic findings. Conclusions Fetal ascites could be the first sign of several lysosomal storage diseases (LSDs), including ISSD. The analysis of LSD gene panels is an effective approach to diagnosis in the case of non-specific symptoms and when specific biochemical tests are not easily available.


1979 ◽  
Author(s):  
D.K. Galanakis ◽  
M.W. Mosesson

Human umbilical oord fibrinogen characteristically displays delayed fibrin aggregation under conditions of relatively high ionic strength. This delay is greater in fibrinogen obtained from premature (p) (24–35 weeks gestation) infants, as compared with that from full term (FT) infants. We compared the sialic acid content of (fraction I-2) fetal (P and FT) with adult (A) fibrinogen, obtained from pooled plasma. The mean sialic acid μg/100mg protein) values were: P, 818 (±135 SD, range 621–1030); FT, 720 (±212, range 505–1280); A, 626 (±110, range 487-806). One P fibrinogen preparation (thrombin time 22.6 seconds) was partially desialated (resulting sialic acid value 490) by incubation with Vibrio cholera neuraminidase, dialyzed , and precipitated with ethanol to remove free sialic acid. The thrombin time of the resulting preparation was 15.4 (range 15.2–15.8), compared to 16.1 (range 15.5–16.4) for untreated A fibrinogen. The results suggest that the delayed fibrin aggregation of fetal fibrinogen is attributable to its relatively high sialic acid content. Moreover, the intermediate sialic acid (and thrombin time) values of FT (as compared to those of p) fibrinogen intimate the presence of a mixture of adult and fetal fibrinogen in full term cord blood.


1987 ◽  
Vol 28 (2) ◽  
pp. 377-384 ◽  
Author(s):  
Martin Renlund ◽  
Pertti Aula ◽  
John M. Opitz ◽  
James F. Reynolds

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