A Model for a Lysosomal Storage Disease and a Possible Method of Therapy

1974 ◽  
Vol 2 (5) ◽  
pp. 871-872 ◽  
Author(s):  
C. MICHAEL COLLEY ◽  
BRENDA E. RYMAN
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage

Is there a role for scintigraphic imaging of bone manifestations in Gaucher disease?

2008 ◽  
Vol 47 (06) ◽  
pp. 239-247 ◽  
Author(s):  
S. Kohlfürst ◽  
H. J. Gallowitsch ◽  
E. Kresnik ◽  
P. Lind ◽  
A. B. Mehta ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Lysosomal Storage Disease ◽  
Gaucher Disease ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Scintigraphic Imaging ◽  
Imaging Methods ◽  
X Ray ◽  
Deficient Activity

SummaryGaucher disease is the most prevalent inherited, lysosomal storage disease and is caused by deficient activity of the enzyme β-glucocerebrosidase. Bone and bone marrow alterations are frequent in the most prevalent non-neuronopathic form of Gaucher disease. Imaging of bone manifestations in Gaucher disease is performed by a variety of imaging methods, conventional X-ray and MRI as the most frequently and most important ones. However, different modalities of scintigraphic imaging have also been used. This article gives an overview on scintigraphic imaging with respect to bone manifestations in Gaucher disease discussing the advantages and limitations of scintigraphic imaging in comparison to other imaging methods.

Neonatal ascites due to lysosomal storage disease.

Radiology ◽  
1983 ◽  
Vol 149 (2) ◽  
pp. 463-467 ◽  
Author(s):  
A Daneman ◽  
D Stringer ◽  
B J Reilly
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage

scholarly journals Impairment of chaperone‐mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis

2015 ◽  
Vol 7 (2) ◽  
pp. 158-174 ◽  
Author(s):  
Gennaro Napolitano ◽  
Jennifer L Johnson ◽  
Jing He ◽  
Celine J Rocca ◽  
Jlenia Monfregola ◽  
...  
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage ◽  
Lysosomal Degradation ◽  
Chaperone Mediated Autophagy

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease

2007 ◽  
Vol 49 (7) ◽  
pp. 571-578 ◽  
Author(s):  
Taina Autti ◽  
Raimo Joensuu ◽  
Laura Åberg
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage

Lectin histochemistry of infantile lysosomal storage disease associated with osteopetrosis

1994 ◽  
Vol 87 (6) ◽  
pp. 594-597 ◽  
Author(s):  
J. Alroy ◽  
Inna Lomakina ◽  
M. Castagnaro ◽  
E. Skutelsky
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lectin Histochemistry ◽  
Lysosomal Storage

Inheritance of an Ovine Lysosomal Storage Disease Associated with Deficiencies of β-Galactosidase and α-Neuraminidase

1990 ◽  
Vol 81 (4) ◽  
pp. 245-249 ◽  
Author(s):  
D. J. Prieur ◽  
A. J. Ahern-Rindell ◽  
R. D. Murnane ◽  
R. W. Wright ◽  
S. M. Parish
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage

Generalized vertebral abnormalities in a Rhodesian Ridgeback with a lysosomal storage disease

2018 ◽  
pp. 565-565
Author(s):  
Georgina Harris ◽  
Samuel Beck ◽  
Birgit Parzefall ◽  
Stephen Cahalan ◽  
Ken Smith ◽  
...  
Keyword(s):  
Lysosomal Storage Disease ◽  
Storage Disease ◽  
Lysosomal Storage
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