Fabry's Disease
A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in t...
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| Veröffentlicht in: | Internal Medicine 1992, Vol.31(5), pp.682-685 |
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| container_end_page | 685 |
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| container_issue | 5 |
| container_start_page | 682 |
| container_title | Internal Medicine |
| container_volume | 31 |
| creator | KATO, Haruka SATO, Kenichi HATTORI, Susumu IKEMOTO, Suguru SHIMIZU, Mitsuyuki ISOGAI, Yukihide |
| description | A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum α-galactosidase A. These findings confirmed the diagnosis of Fabry's disease. (Internal Medicine 31 : 682-685, 1992) |
| doi_str_mv | 10.2169/internalmedicine.31.682 |
| format | Article |
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Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry'sdisease were observed in the endothelial cells. Biochemical examination revealed a decreased level of serum α-galactosidase A. These findings confirmed the diagnosis of Fabry's disease. 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(Internal Medicine 31 : 682-685, 1992)</description><subject>Adult</subject><subject>angiokeratoma corporis diffusum</subject><subject>ceramide trihexoside</subject><subject>Cytoplasmic Granules - ultrastructure</subject><subject>Endothelium, Vascular - ultrastructure</subject><subject>Fabry Disease - diagnosis</subject><subject>Fabry Disease - enzymology</subject><subject>Fabry Disease - pathology</subject><subject>Humans</subject><subject>Male</subject><subject>α-galactosidase A</subject><issn>0918-2918</issn><issn>1349-7235</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNplUD1PwzAQtRColIL4BQgmmFJ8vtixR9RSQKoEA8yW41wgVZoWOx3670mVqkiwvBvel-4xdg18LECZ-6ppKTSuXlJR-aqhMcJYaXHEhoCpSTKB8pgNuQGdiA5O2VmMC85RZ0YM2ABQpBzVkF3OXB62d_FmWkVykc7ZSenqSBf7O2Ifs8f3yXMyf316mTzMEy8ltklunAYwzvBM5bnSyvASC5DG85K8zkvHiRT3qSqwFIXX3pFJlcikRp5pwBG77XPXYfW9odjaZRU91bVraLWJNkNACQI7YdYLfVjFGKi061AtXdha4HY3hf07hUWw3RSd82pfsck77tfX_97xbz2_iK37pAPvQlv5mv7lgjFily176CoOUv_lgqUGfwCcvXqB</recordid><startdate>1992</startdate><enddate>1992</enddate><creator>KATO, Haruka</creator><creator>SATO, Kenichi</creator><creator>HATTORI, Susumu</creator><creator>IKEMOTO, Suguru</creator><creator>SHIMIZU, Mitsuyuki</creator><creator>ISOGAI, Yukihide</creator><general>The Japanese Society of Internal Medicine</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>1992</creationdate><title>Fabry's Disease</title><author>KATO, Haruka ; SATO, Kenichi ; HATTORI, Susumu ; IKEMOTO, Suguru ; SHIMIZU, Mitsuyuki ; ISOGAI, Yukihide</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c553t-b9a8119a9076bb68690f3d159c0fec8bfa0ee60c46d3f2dc8cae9462758307813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Adult</topic><topic>angiokeratoma corporis diffusum</topic><topic>ceramide trihexoside</topic><topic>Cytoplasmic Granules - ultrastructure</topic><topic>Endothelium, Vascular - ultrastructure</topic><topic>Fabry Disease - diagnosis</topic><topic>Fabry Disease - enzymology</topic><topic>Fabry Disease - pathology</topic><topic>Humans</topic><topic>Male</topic><topic>α-galactosidase A</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KATO, Haruka</creatorcontrib><creatorcontrib>SATO, Kenichi</creatorcontrib><creatorcontrib>HATTORI, Susumu</creatorcontrib><creatorcontrib>IKEMOTO, Suguru</creatorcontrib><creatorcontrib>SHIMIZU, Mitsuyuki</creatorcontrib><creatorcontrib>ISOGAI, Yukihide</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Internal Medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KATO, Haruka</au><au>SATO, Kenichi</au><au>HATTORI, Susumu</au><au>IKEMOTO, Suguru</au><au>SHIMIZU, Mitsuyuki</au><au>ISOGAI, Yukihide</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fabry's Disease</atitle><jtitle>Internal Medicine</jtitle><addtitle>Intern. 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| fulltext | fulltext |
| identifier | ISSN: 0918-2918 |
| ispartof | Internal Medicine, 1992, Vol.31(5), pp.682-685 |
| issn | 0918-2918 1349-7235 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73135123 |
| source | J-STAGE Free; MEDLINE; EZB-FREE-00999 freely available EZB journals |
| subjects | Adult angiokeratoma corporis diffusum ceramide trihexoside Cytoplasmic Granules - ultrastructure Endothelium, Vascular - ultrastructure Fabry Disease - diagnosis Fabry Disease - enzymology Fabry Disease - pathology Humans Male α-galactosidase A |
| title | Fabry's Disease |
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