Mucolipidosis III and bardet-biedl syndrome in the same family: Diagnostic pitfalls
- 1 January 1990
- journal article
- research article
- Published by Elsevier in Brain & Development
- Vol. 12 (4) , 403-407
- https://doi.org/10.1016/s0387-7604(12)80072-6
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- SELECTION IN FAVOR OF LYSOSOMAL STORAGE DISORDERS1988
- Episodic hormone secretion during sleep in Kleine-Levin syndrome: Evidence for hypothalamic dysfunctionBrain & Development, 1987
- Homozygosity for the variant ?-L-fucosidase trait and mucolipidosis IIIHuman Genetics, 1985
- Assignment of the gene for Wilson disease to chromosome 13: linkage to the esterase D locus.Proceedings of the National Academy of Sciences, 1985
- Mucolipidosis II and III. The genetic relationships between two disorders of lysosomal enzyme biosynthesis.Journal of Clinical Investigation, 1983
- Mucolipidosis III is genetically heterogeneous.Proceedings of the National Academy of Sciences, 1982
- The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in SwitzerlandJournal of the Neurological Sciences, 1969