TY  - GEN
AU  - Myers,Kenneth A
AU  - Bennett,Mark F
AU  - Chow,Chung W
AU  - Carden,Susan M
AU  - Mandelstam,Simone A
AU  - Bahlo,Melanie
AU  - Scheffer,Ingrid E
TI  - Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay
SN  - 1552-4833
PY  - 2018///0621
KW  - Brain
KW  - pathology
KW  - Child
KW  - Electroencephalography
KW  - Enzyme Activation
KW  - Enzyme Assays
KW  - Female
KW  - Gangliosidosis, GM1
KW  - diagnosis
KW  - Genetic Association Studies
KW  - Genotype
KW  - Humans
KW  - Mosaicism
KW  - Neuroimaging
KW  - Phenotype
KW  - Schwann Cells
KW  - metabolism
KW  - Skin
KW  - Uniparental Disomy
KW  - Exome Sequencing
KW  - beta-Galactosidase
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.38549
ER  -