Fabry disease: A treatable lysosomal storage disorder.

Simple item page
dc.contributor.authorPhadke, Shubha R
dc.contributor.authorMandal, Kausik
dc.contributor.authorGirisha, K M
dc.date.accessioned2012-06-15T08:30:14Z
dc.date.available2012-06-15T08:30:14Z
dc.date.issued2009-01
dc.description.abstractFabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparaesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger brother had gastrointestinal manifestations of the disease and their mother’s symptoms suggested that she is a carrier. Enzyme replacement therapy helped in ameliorating the patient’s symptoms and preventing complications such as renal failure, stroke and cardiovascular disorders.en_US
dc.identifier.citationPhadke Shubha R, Mandal Kausik, Girisha K M. Fabry disease: A treatable lysosomal storage disorder. National Medical Journal of India. 2009 Jan-Feb; 22(1): 20-22.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/139032
dc.language.isoenen_US
dc.source.urihttps://www.nmji.in/archives/Volume-22/Issue-1/PDF-volume-22-issue-1/Volume-21-issue-1-Clinical-Case.pdfen_US
dc.subject.meshAdolescent
dc.subject.meshFabry Disease --diagnosis
dc.subject.meshFabry Disease --drug therapy
dc.subject.meshFabry Disease --genetics
dc.subject.meshHumans
dc.subject.meshIsoenzymes --therapeutic use
dc.subject.meshLysosomal Storage Diseases --diagnosis
dc.subject.meshLysosomal Storage Diseases --drug therapy
dc.subject.meshLysosomal Storage Diseases --genetics
dc.subject.meshRecombinant Proteins --therapeutic use
dc.subject.meshMale
dc.subject.meshRisk Factors
dc.subject.meshalpha-Galactosidase --metabolism
dc.subject.otheralpha-Galactosidase --therapeutic use
dc.titleFabry disease: A treatable lysosomal storage disorder.en_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
nmji2009v22n1p20.pdf
Size:
100.97 KB
Format:
Adobe Portable Document Format
Description:
Journal article
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
National Medical Journal of India