Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9331-7
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2. Berg T, Hopwood JJ (2002) Alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. Biochim Biophys Acta 1586:169–176
3. Danielsen ER, Ross B (1999) Magnetic resonance spectroscopy diagnosis of neurological diseases. Marcel Dekker INC, New York
4. D'Hooge R, Lullmann-Rauch R, Beckers T, Balschun D, Schwake M, Reiss K, von Figura K, Saftig P (2005) Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis. J Neurosci 25:6539–6549
5. Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C (2004) Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr 144:569–573
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