Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay. [electronic resource]
Producer: 20180621Description: 230-234 p. digitalISSN:- 1552-4833
- Brain -- pathology
- Child
- Electroencephalography
- Enzyme Activation
- Enzyme Assays
- Female
- Gangliosidosis, GM1 -- diagnosis
- Genetic Association Studies
- Genotype
- Humans
- Mosaicism
- Neuroimaging
- Phenotype
- Schwann Cells -- metabolism
- Skin -- pathology
- Uniparental Disomy
- Exome Sequencing
- beta-Galactosidase -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.