✦ LIBER ✦

Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

✍ Scribed by Pierson, T. M.; Adams, D. A.; Markello, T.; Golas, G.; Yang, S.; Sincan, M.; Simeonov, D. R.; Fuentes Fajardo, K.; Hansen, N. F.; Cherukuri, P. F.; Cruz, P.; Teer, J. K.; Mullikin, J. C.; Boerkoel, C. F.; Gahl, W. A.; Tifft, C. J.

Book ID: 118749227
Publisher: Lippincott Williams and Wilkins
Year: 2012
Tongue: English
Weight: 376 KB
Volume: 79
Category: Article
ISSN: 0028-3878
DOI: 10.1212/WNL.0b013e31825f047a

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Intrauterine growth retardation and plac

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1gangliosidosis

✍ Nicola Brunetti-Pierri; Asad Mian; Rebecca Luetchke; Brett H. Graham 📂 Article 📅 2007 🏛 Springer 🌐 English ⚖ 201 KB

Generalised dystonia with an abnormal ma

Generalised dystonia with an abnormal magnetic resonance imaging signal in the basal ganglia: A case of adult-onset GM1 gangliosidosis

✍ Jaume Campdelacreu; Esteban Muñoz; Beatriz Gómez; Teresa Pujol; Amparo Chabás; E 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 394 KB

## Abstract We describe a 46‐year‐old woman with adult‐onset generalised dystonia and a severe speech disorder with an abnormal magnetic resonance imaging signal in the basal ganglia. A storage disease study demonstrated the presence of a GM1 gangliosidosis. This rare condition should be investigat