@article{321fd6b6a34e4b7e891f766dbac665e5,
title = "Phosphoglycerate mutase deficiency: Case report of a manifesting heterozygote with a novel E154K mutation and very late onset",
author = "Joshi, \{Pushpa Raj\} and Manuela Knape and Stephan Zierz and Marcus Deschauer",
year = "2009",
doi = "10.1007/s00401-009-0524-1",
language = "English",
volume = "117",
pages = "723--725",
journal = "Acta Neuropathologica",
issn = "0001-6322",
publisher = "Springer Science and Business Media Deutschland GmbH",
number = "6",
}