Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome
dc.contributor.author | Van Royen-Kerkhof, A. | |
dc.contributor.author | Pollthe, B. | |
dc.contributor.author | Kleijer, W. | |
dc.contributor.author | van Diggelen, O. | |
dc.contributor.author | Aerts, J. | |
dc.contributor.author | Hopwood, J. | |
dc.contributor.author | Beemer, F. | |
dc.date.issued | 1998 | |
dc.description | Letter | |
dc.description.statementofresponsibility | Royen-Kerkhof, van, A. ; Kleijer, W.J. ; Diggelen, van, O.P. ; Aerts, J.M.F.G. ; Hopwoud, J.J. ; Beemer, F.A. | |
dc.identifier.citation | Journal of Medical Genetics, 1998; 35(11):965-966 | |
dc.identifier.doi | 10.1136/jmg.35.11.965 | |
dc.identifier.issn | 0022-2593 | |
dc.identifier.issn | 1468-6244 | |
dc.identifier.uri | http://hdl.handle.net/2440/7531 | |
dc.language.iso | en | |
dc.publisher | BRITISH MED JOURNAL PUBL GROUP | |
dc.source.uri | http://jmg.bmj.com/cgi/reprint/35/11/965 | |
dc.subject | Cerebellum | |
dc.subject | Cells, Cultured | |
dc.subject | Humans | |
dc.subject | Gaucher Disease | |
dc.subject | Cerebellar Diseases | |
dc.subject | Syndrome | |
dc.subject | Glucosylceramidase | |
dc.subject | Pedigree | |
dc.subject | Child, Preschool | |
dc.subject | Infant | |
dc.subject | Female | |
dc.subject | Male | |
dc.title | Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome | |
dc.type | Journal article | |
pubs.publication-status | Published |