Phosphoglycerate mutase deficiency: Case report of a manifesting heterozygote with a novel E154K mutation and very late onset

Pushpa Raj Joshi, Manuela Knape, Stephan Zierz, Marcus Deschauer

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6 Scopus citations

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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",

}

TY - JOUR

T1 - Phosphoglycerate mutase deficiency

T2 - Case report of a manifesting heterozygote with a novel E154K mutation and very late onset

AU - Joshi, Pushpa Raj

AU - Knape, Manuela

AU - Zierz, Stephan

AU - Deschauer, Marcus

PY - 2009

Y1 - 2009

UR - http://www.scopus.com/inward/record.url?scp=67349233516&partnerID=8YFLogxK

U2 - 10.1007/s00401-009-0524-1

DO - 10.1007/s00401-009-0524-1

M3 - Article

C2 - 19322572

AN - SCOPUS:67349233516

SN - 0001-6322

VL - 117

SP - 723

EP - 725

JO - Acta Neuropathologica

JF - Acta Neuropathologica

IS - 6

ER -