Gaucher disease in the neonate : a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene
A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with gluco...
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| Veröffentlicht in: | Pediatric research 1992-10, Vol.32 (4), p.494-498 |
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| container_title | Pediatric research |
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| creator | SIDRANSKY, E SHERER, D. M GINNS, E. I |
| description | A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase deficiency, these infants present at or shortly after birth, have rapidly progressing fulminant disease, and many have associated ichthyotic skin and/or hydrops fetalis. This transgenetic mouse model of Gaucher disease has helped us to appreciate a distinct Gaucher phenotype. Potentially, as this technology is applied to create other animal models of metabolic diseases, it may enable the recognition of other, as yet unappreciated presentations of inherited disorders. |
| doi_str_mv | 10.1203/00006450-199210000-00023 |
| format | Article |
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M</creatorcontrib><creatorcontrib>GINNS, E. I</creatorcontrib><title>Gaucher disease in the neonate : a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene</title><title>Pediatric research</title><addtitle>Pediatr Res</addtitle><description>A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase deficiency, these infants present at or shortly after birth, have rapidly progressing fulminant disease, and many have associated ichthyotic skin and/or hydrops fetalis. This transgenetic mouse model of Gaucher disease has helped us to appreciate a distinct Gaucher phenotype. Potentially, as this technology is applied to create other animal models of metabolic diseases, it may enable the recognition of other, as yet unappreciated presentations of inherited disorders.</description><subject>Animals</subject><subject>Animals, Newborn</subject><subject>Biological and medical sciences</subject><subject>Disease Models, Animal</subject><subject>Errors of metabolism</subject><subject>Gaucher Disease - complications</subject><subject>Gaucher Disease - genetics</subject><subject>Gaucher Disease - pathology</subject><subject>Glucosylceramidase - genetics</subject><subject>Humans</subject><subject>Hydrops Fetalis - complications</subject><subject>Hydrops Fetalis - genetics</subject><subject>Ichthyosis - complications</subject><subject>Ichthyosis - genetics</subject><subject>Infant, Newborn</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Mice</subject><subject>Mice, Transgenic</subject><subject>Phenotype</subject><subject>Skin - pathology</subject><issn>0031-3998</issn><issn>1530-0447</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFUclu2zAQJYoEqZP0EwrwUOSmlKuW3oogGxCgl9yFMTm0VcikSlIHf0r_NpTtJAOQM4P3ZiEfIZSzWy6Y_MmK1Uqzined4EtWlSPkF7LiWpZEqeaMrBiTvJJd134llyn9ZYwr3aoLcsGVbBTTK_L_EWazxUjtkBAS0sHTvEXqMXjISH9RWKA8eJPpO3faog95PxV2ouBhDJswJ5pDIe9KhOW2OFITsfSwdL2nGeIGl7g0i_OUh-BpcIdRm3E2wWDEdQxpsMsSG_R4Tc4djAm_nfwVeX24f717ql7-PD7f_X6pjNI6V-W1gre1BSVb5iw4cA4bzWtlVVvrDrVutF2DqztTa6M5F60BJxsUzqCQV-Tm2HaK4d-MKfe7IRkcRyhfMKe-kcV02xRieySasmaK6PopDjuI-56zfhGlfxel_xClP4hSSr-fZszrHdrPwqMKBf9xwiEZGF0Eb4b0QVOyE6Js8AYZNZbi</recordid><startdate>19921001</startdate><enddate>19921001</enddate><creator>SIDRANSKY, E</creator><creator>SHERER, D. 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I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c455t-5302186da4380fdafaffe75164d48659e5575dbaf69c65c51128caf37e2fce23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>Animals</topic><topic>Animals, Newborn</topic><topic>Biological and medical sciences</topic><topic>Disease Models, Animal</topic><topic>Errors of metabolism</topic><topic>Gaucher Disease - complications</topic><topic>Gaucher Disease - genetics</topic><topic>Gaucher Disease - pathology</topic><topic>Glucosylceramidase - genetics</topic><topic>Humans</topic><topic>Hydrops Fetalis - complications</topic><topic>Hydrops Fetalis - genetics</topic><topic>Ichthyosis - complications</topic><topic>Ichthyosis - genetics</topic><topic>Infant, Newborn</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Mice</topic><topic>Mice, Transgenic</topic><topic>Phenotype</topic><topic>Skin - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SIDRANSKY, E</creatorcontrib><creatorcontrib>SHERER, D. M</creatorcontrib><creatorcontrib>GINNS, E. I</creatorcontrib><collection>Pascal-Francis</collection><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>Pediatric research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>SIDRANSKY, E</au><au>SHERER, D. M</au><au>GINNS, E. I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Gaucher disease in the neonate : a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene</atitle><jtitle>Pediatric research</jtitle><addtitle>Pediatr Res</addtitle><date>1992-10-01</date><risdate>1992</risdate><volume>32</volume><issue>4</issue><spage>494</spage><epage>498</epage><pages>494-498</pages><issn>0031-3998</issn><eissn>1530-0447</eissn><coden>PEREBL</coden><abstract>A group of neonates with Gaucher disease with a particularly devastating clinical course is described. The phenotype of these infants is analogous to that of a Gaucher mouse, which was created by targeted disruption of the mouse glucocerebroside gene. Similar to the homozygous mutant mice with glucocerebrosidase deficiency, these infants present at or shortly after birth, have rapidly progressing fulminant disease, and many have associated ichthyotic skin and/or hydrops fetalis. This transgenetic mouse model of Gaucher disease has helped us to appreciate a distinct Gaucher phenotype. Potentially, as this technology is applied to create other animal models of metabolic diseases, it may enable the recognition of other, as yet unappreciated presentations of inherited disorders.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>1437405</pmid><doi>10.1203/00006450-199210000-00023</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Pediatric research, 1992-10, Vol.32 (4), p.494-498 |
| issn | 0031-3998 1530-0447 |
| language | eng |
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| source | MEDLINE; SpringerLink Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection; Journals@Ovid Complete |
| subjects | Animals Animals, Newborn Biological and medical sciences Disease Models, Animal Errors of metabolism Gaucher Disease - complications Gaucher Disease - genetics Gaucher Disease - pathology Glucosylceramidase - genetics Humans Hydrops Fetalis - complications Hydrops Fetalis - genetics Ichthyosis - complications Ichthyosis - genetics Infant, Newborn Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Mice Mice, Transgenic Phenotype Skin - pathology |
| title | Gaucher disease in the neonate : a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene |
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