Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene-Reference-Cited by-同舟云学术

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene

Published:2009-04-08 Issue:S1 Volume:32 Page:161-168
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lamperti C.,Salani S.,Lucchiari S.,Bordoni A.,Ripolone M.,Fagiolari G.,Fruguglietti M. E.,Crugnola V.,Colombo C.,Cappellini A.,Prelle A.,Bresolin N.,Comi G. P.,Moggio M.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-009-1134-8

Reference23 articles.

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3. Brown BI, Brown DH (1966) Lack of an alpha-1,4-glucan:alpha-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis. Proc Natl Acad Sci U S A 56: 725–729. doi: 10.1073/pnas.56.2.725 .

4. Bruno C, Servidei S, Shanske S, et al (1993) Glycogen branching enzyme deficiency in adult polyglucosan body disease. Ann Neurol 33: 88–93. doi: 10.1002/ana.410330114 .

5. Bruno C, DiRocco M, Lamba LD, et al (1999) A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy. Neuromuscul Disord 9: 403–407. doi: 10.1016/S0960-8966(99)00040-1 .

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