Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

1990 ◽  
Vol 417 (5) ◽  
pp. 449-455 ◽  
Author(s):  
M. Elleder ◽  
V. Bradová ◽  
F. Smíd ◽  
M. BudĚšínský ◽  
K. Harzer ◽  
...  
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease

Fabry's disease

1972 ◽  
Vol 105 (5) ◽  
pp. 774-774
Author(s):  
A. Chaitin
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease

A Case of Fabry's Disease Diagnosed in Adult

2012 ◽  
Vol 74 (3) ◽  
pp. 248-251
Author(s):  
Saori TATEMATSU ◽  
Shinichi IMAFUKU ◽  
Tatsuki MORI ◽  
Kotaro ITO ◽  
Monji KOGA ◽  
...  
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease

Electrocardiograms in Fabry's disease

1982 ◽  
Vol 15 (2) ◽  
pp. 153-156 ◽  
Author(s):  
Kumudchandra J. Sheth ◽  
John P. Thomas
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease

Avascular Necrosis of Bilateral Femoral Heads in a Patient with Fabry's Disease

2012 ◽  
Vol 22 (1) ◽  
pp. 119-121 ◽  
Author(s):  
Francis O'Neill ◽  
John Rice
Keyword(s):  
Avascular Necrosis ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Femoral Heads

Hair root diagnosis of Fabry's disease

1989 ◽  
Vol 12 (4) ◽  
pp. 491-492
Author(s):  
D. Robinson ◽  
J. M. Tager
Keyword(s):  
Hair Root ◽  
Fabry’S Disease ◽  
Fabry's Disease

Fabry's Disease with LVOT Obstruction: Diagnosis and Management

2013 ◽  
Vol 28 (6) ◽  
pp. 695-698 ◽  
Author(s):  
Jacob R. Blount ◽  
James K. Wu ◽  
Matthew W. Martinez
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Diagnosis And Management

Otologic Histopathology of Fabry's Disease

1989 ◽  
Vol 98 (5) ◽  
pp. 359-363 ◽  
Author(s):  
Patricia A. Schachern ◽  
Michael M. Paparella ◽  
Donald A. Shea ◽  
Tae H. Yoon
Keyword(s):  
Temporal Bone ◽  
Ganglion Cells ◽  
Spiral Ganglion ◽  
Cell Loss ◽  
The Body ◽  
Spiral Ligament ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Temporal Bones ◽  
Spiral Ganglia

Fabry's disease is a rare progressive X-linked recessive disorder of glycosphingolipid metabolism. The accumulation of glycosphingolipids occurs in virtually all areas of the body, including the endothelial, perithelial, and smooth-muscle cells of blood vessels, the ganglion cells of the autonomic nervous system, and the glomeruli and tubules of the kidney. Although otologic symptoms have been described in these patients, to our knowledge there have been no temporal bone histopathologic reports. We describe the clinical histories, audiometric results, and temporal bone findings of two patients with this rare disorder. Both patients demonstrated a bilateral sloping sensorineural hearing loss audiometrically. Middle ear findings of seropurulent effusions and hyperplastic mucosa were seen in all four temporal bones. Strial and spiral ligament atrophy in all turns, and hair cell loss mainly in the basal turns, were also common findings. The number of spiral ganglion cells was reduced in all temporal bones; however, evidence of glycosphingolipid accumulation was not observed in the spiral ganglia.

Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease

1981 ◽  
Vol 4 (5) ◽  
pp. 381-387 ◽  
Author(s):  
J. F. Pellissier ◽  
F. van Hoof ◽  
D. Bourdet-Bonerandi ◽  
M. C. Monier-Faugere ◽  
M. Toga
Keyword(s):  
Peripheral Nerve ◽  
Biochemical Changes ◽  
Fabry’S Disease ◽  
Fabry's Disease
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