The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background

Author:

Hussain Abrar,Armistead Joy,Gushulak Lara,Kruck Christa,Pind Steven,Triggs-Raine Barbara,Natowicz Marvin R.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry,Biophysics

Reference25 articles.

1. P.S. Kishnani, D. Koeberl, Y.-T. Chen, Glycogen storage diseases, in: D. Valle, A.L. Beaudet, B. Vogelstein, K.W. Kinzler, S.E. Antonarakis, A. Ballabio (Eds.), Scriver’s Online Metabolic and Molecular Basis of Inherited Disease, McGraw-Hill, New York, 2009 (Chapter 71).

2. Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV;Lee;Hum. Mol. Genet.,2011

3. Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV;Akman;Hum. Mol. Genet.,2011

4. C.J. Klein, Adult polyglucosan body disease, in: R.A. Pagon, T.D. Bird, C.R. Dolan, et al. (Eds.), GeneReviews™ [Internet], Seattle, WA, 2009.

5. Hereditary branching enzyme dysfunction in adult polyglucosan body disease: a possible metabolic cause in two patients;Lossos;Annu. Neurol.,1991

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