article_metadata: Christopher Grunseich Alice B Schindler Ke-Lian Chen Dara Bakar Ami Mankodi Ryan Traslavina Abhik Ray-Chaudhury Tanya J Lehky Eva H Baker Nicholas J Maragakis Cynthia J Tifft Kenneth H Fischbeck
article_metadata: 10.1007/s00415-015-7683-x
article_metadata: J Neurol
article_metadata: 2015;262(4):1066-8.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25736553/
article_metadata: Proteins / genetics Sandhoff Disease / genetics Sandhoff Disease / physiopathology beta-Hexosaminidase beta Chain / genetics
article_metadata: Proteins / genetics Sandhoff Disease / genetics Sandhoff Disease / physiopathology beta-Hexosaminidase beta Chain / genetics Case Reports Letter Research Support, N.I.H., Intramural Female Humans Intracellular Signaling Peptides and Proteins Male Middle Aged Pedigree Intracellular Signaling Peptides and Proteins Proteins SH3TC2 protein, human HEXB protein, human beta-Hexosaminidase beta Chain
article_metadata: PMC4405612
article_metadata: 25736553
article_metadata: Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency
article_metadata: 2015