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

✍ Scribed by Pushpa Raj Joshi; Manuela Knape; Stephan Zierz; Marcus Deschauer

• Publisher: Springer-Verlag
• Year: 2009
• Tongue: English
• Weight: 301 KB
• Volume: 117
• Category: Article
• ISSN: 0001-6322
• DOI: 10.1007/s00401-009-0524-1