Type 3 Gaucher’s Disease in a Three-Year-Old Child: Saccadic Eye Movements Analysis
Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is t...
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| Veröffentlicht in: | Journal of AAPOS 2005-10, Vol.9 (5), p.501-503 |
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| creator | Accardo, Agostino Bembi, Bruno Pensiero, Stefano Perissutti, Paolo |
| description | Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood-brain barrier. |
| doi_str_mv | 10.1016/j.jaapos.2005.04.013 |
| format | Article |
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Among its three existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood-brain barrier.</description><subject>Child, Preschool</subject><subject>Female</subject><subject>Gaucher Disease - complications</subject><subject>Gaucher Disease - physiopathology</subject><subject>Humans</subject><subject>Nystagmus, Pathologic - etiology</subject><subject>Nystagmus, Pathologic - physiopathology</subject><subject>Saccades - physiology</subject><subject>Severity of Illness Index</subject><subject>Vision, Binocular - physiology</subject><issn>1091-8531</issn><issn>1528-3933</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kL9OwzAQhy0EouXPGyDkiS3hHCeOzYBUlVKQijrQDkyW61xUV2lS7LZSN16D1-NJSNVKbEx3w_f7ne4j5IZBzICJ-0W8MGbVhDgByGJIY2D8hHRZlsiIK85P2x0Ui2TGWYdchLAAAKEYOycdJhLGUxBdMp3sVkg5HZqNnaP_-foO9MkFNAGpq6mhk7lHjD7Q-GhcFbQ_d1XxQN-NtaZwlg52SN-aLS6xXgfaq021Cy5ckbPSVAGvj_OSTJ8Hk_5LNBoPX_u9UWS5gHWUmFQlktvEAkOUSghkqGYZGOCzJJeqyLMSVC4tzzNMePtOqTBnGUtlmQLwS3J36F355nODYa2XLlisKlNjswlaSCFUJvMWTA-g9U0IHku98m5p_E4z0HudeqEPOvVep4ZUtzrb2O2xfzNbYvEXOvprgccDgO2XW4deB-uwtlg4j3ati8b9f-EXpSqGIw</recordid><startdate>20051001</startdate><enddate>20051001</enddate><creator>Accardo, Agostino</creator><creator>Bembi, Bruno</creator><creator>Pensiero, Stefano</creator><creator>Perissutti, Paolo</creator><general>Mosby, Inc</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>20051001</creationdate><title>Type 3 Gaucher’s Disease in a Three-Year-Old Child: Saccadic Eye Movements Analysis</title><author>Accardo, Agostino ; Bembi, Bruno ; Pensiero, Stefano ; Perissutti, Paolo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c360t-2a49283c2c01ee8966e1e9b50a03b2789d75f0978c375e23091f9e715148f4003</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Child, Preschool</topic><topic>Female</topic><topic>Gaucher Disease - complications</topic><topic>Gaucher Disease - physiopathology</topic><topic>Humans</topic><topic>Nystagmus, Pathologic - etiology</topic><topic>Nystagmus, Pathologic - physiopathology</topic><topic>Saccades - physiology</topic><topic>Severity of Illness Index</topic><topic>Vision, Binocular - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Accardo, Agostino</creatorcontrib><creatorcontrib>Bembi, Bruno</creatorcontrib><creatorcontrib>Pensiero, Stefano</creatorcontrib><creatorcontrib>Perissutti, Paolo</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>Journal of AAPOS</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Accardo, Agostino</au><au>Bembi, Bruno</au><au>Pensiero, Stefano</au><au>Perissutti, Paolo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Type 3 Gaucher’s Disease in a Three-Year-Old Child: Saccadic Eye Movements Analysis</atitle><jtitle>Journal of AAPOS</jtitle><addtitle>J AAPOS</addtitle><date>2005-10-01</date><risdate>2005</risdate><volume>9</volume><issue>5</issue><spage>501</spage><epage>503</epage><pages>501-503</pages><issn>1091-8531</issn><eissn>1528-3933</eissn><abstract>Gaucher's disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. 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| ispartof | Journal of AAPOS, 2005-10, Vol.9 (5), p.501-503 |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Child, Preschool Female Gaucher Disease - complications Gaucher Disease - physiopathology Humans Nystagmus, Pathologic - etiology Nystagmus, Pathologic - physiopathology Saccades - physiology Severity of Illness Index Vision, Binocular - physiology |
| title | Type 3 Gaucher’s Disease in a Three-Year-Old Child: Saccadic Eye Movements Analysis |
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