Carmen Paradas Hasan O Akman Carolina Ionete Heather Lau Peter N Riskind David E Jones Thomas W Smith Michio Hirano Salvatore Dimauro
10.1001/jamaneurol.2013.4888
JAMA Neurol
2014 Jan;71(1):41-7.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/24248152/
Glycogen Debranching Enzyme System / genetics Glycogen Storage Disease Type IV / genetics Glycogen Storage Disease Type IV / pathology
Glycogen Debranching Enzyme System / genetics Glycogen Storage Disease Type IV / genetics Glycogen Storage Disease Type IV / pathology Case Reports Multicenter Study Research Support, Non-U.S. Gov't Acute Disease Age of Onset Disease Progression Female Follow-Up Studies Genetic Carrier Screening Glycogen Storage Disease Type IV / enzymology Homozygote Humans Leukoencephalopathies / diagnosis Leukoencephalopathies / genetics Leukoencephalopathies / pathology Magnetic Resonance Imaging Male Middle Aged Spinocerebellar Ataxias / diagnosis Spinocerebellar Ataxias / genetics Spinocerebellar Ataxias / pathology Glycogen Debranching Enzyme System GBE1 protein, human
PMC6148323
24248152
Branching enzyme deficiency: expanding the clinical spectrum
2014