Adelaide Research & Scholarship
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https://hdl.handle.net/2440/7531
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| Type: | Journal article |
| Title: | Coexistence of Gaucher-Disease Type 1 and Joubert-Syndrome |
| Author: | Van Royen-Kerkhof, A. Pollthe, B. Kleijer, W. van Diggelen, O. Aerts, J. Hopwood, J. Beemer, F. |
| Citation: | Journal of Medical Genetics, 1998; 35(11):965-966 |
| Publisher: | BRITISH MED JOURNAL PUBL GROUP |
| Issue Date: | 1998 |
| ISSN: | 0022-2593 1468-6244 |
| Statement of Responsibility: | Royen-Kerkhof, van, A. ; Kleijer, W.J. ; Diggelen, van, O.P. ; Aerts, J.M.F.G. ; Hopwoud, J.J. ; Beemer, F.A. |
| Keywords: | Cerebellum Cells, Cultured Humans Gaucher Disease Cerebellar Diseases Syndrome Glucosylceramidase Pedigree Child, Preschool Infant Female Male |
| Description: | Letter |
| DOI: | 10.1136/jmg.35.11.965 |
| Published version: | http://jmg.bmj.com/cgi/reprint/35/11/965 |
| Appears in Collections: | Aurora harvest Paediatrics publications |
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