Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
Author:
Funder
National Institute of Neurological Disorders and Stroke
NIMAD
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1186/s12881-017-0417-4.pdf
Reference20 articles.
1. Sanchez-Fernandez EM, Garcia Fernandez JM, Mellet CO. Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases. Chem Commun (Camb). 2016;52(32):5497–515.
2. Kannebley JS, Silveira-Moriyama L, Bastos LO, Steiner CE. Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis. JIMD Rep. 2015;24:115–22.
3. Sandhoff K, Harzer K. Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis. J Neurosci. 2013;33(25):10195–208.
4. Jeyakumar M, Thomas R, Elliot‐Smith E, Smith D, Van Der Spoel A, d’Azzo A, Perry VH, Butters T, Dwek R, Platt F. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain. 2003;126(4):974–87.
5. Armstrong-Javors A, Chu CJ. Child neurology: Exaggerated dermal melanocytosis in a hypotonic infant: a harbinger of GM1 gangliosidosis. Neurology. 2014;83(17):e166–8.
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