Fabry′s disease
Fabry′s disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2015-01-01
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| Series: | Medical Journal of Dr. D.Y. Patil University |
| Subjects: | |
| Online Access: | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2015;volume=8;issue=6;spage=822;epage=825;aulast=Tomar |
| _version_ | 1818565947826372608 |
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| author | Laxmikant Ramkumarsingh Tomar Ajinkya Ashok Sonambekar Sambav Gupta Nikhil Gupta |
| author_facet | Laxmikant Ramkumarsingh Tomar Ajinkya Ashok Sonambekar Sambav Gupta Nikhil Gupta |
| author_sort | Laxmikant Ramkumarsingh Tomar |
| collection | DOAJ |
| description | Fabry′s disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case. |
| first_indexed | 2024-12-14T01:47:24Z |
| format | Article |
| id | doaj.art-e6811dea5c864ac69549c571fd051fd2 |
| institution | Directory Open Access Journal |
| issn | 0975-2870 |
| language | English |
| last_indexed | 2024-12-14T01:47:24Z |
| publishDate | 2015-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Medical Journal of Dr. D.Y. Patil University |
| spelling | doaj.art-e6811dea5c864ac69549c571fd051fd22022-12-21T23:21:30ZengWolters Kluwer Medknow PublicationsMedical Journal of Dr. D.Y. Patil University0975-28702015-01-018682282510.4103/0975-2870.169938Fabry′s diseaseLaxmikant Ramkumarsingh TomarAjinkya Ashok SonambekarSambav GuptaNikhil GuptaFabry′s disease is an X-linked multisystem disorder due to the deficiency of lysosomal enzyme α-galactosidase A, leads to accumulation of sphingolipids throughout the body. Key causes for premature death include cardiac and renal. Here, we present important clinical findings of such rare case.http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2015;volume=8;issue=6;spage=822;epage=825;aulast=TomarCardiaccutaneousFabryrenal |
| spellingShingle | Laxmikant Ramkumarsingh Tomar Ajinkya Ashok Sonambekar Sambav Gupta Nikhil Gupta Fabry′s disease Medical Journal of Dr. D.Y. Patil University Cardiac cutaneous Fabry renal |
| title | Fabry′s disease |
| title_full | Fabry′s disease |
| title_fullStr | Fabry′s disease |
| title_full_unstemmed | Fabry′s disease |
| title_short | Fabry′s disease |
| title_sort | fabry s disease |
| topic | Cardiac cutaneous Fabry renal |
| url | http://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2015;volume=8;issue=6;spage=822;epage=825;aulast=Tomar |
| work_keys_str_mv | AT laxmikantramkumarsinghtomar fabrysdisease AT ajinkyaashoksonambekar fabrysdisease AT sambavgupta fabrysdisease AT nikhilgupta fabrysdisease |