Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship-Reference-Cited by-同舟云学术

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Published:2013 Issue:1 Volume:8 Page:159
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Sampaolo Simone,Esposito Teresa,Farina Olimpia,Formicola Daniela,Diodato Daria,Gianfrancesco Fernando,Cipullo Federica,Cremone Gaetana,Cirillo Mario,Del Viscovo Luca,Toscano Antonio,Angelini Corrado,Di Iorio Giuseppe

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Reference29 articles.

1. Pompe disease diagnosis and management guideline

2. Residual acid maltase activity in late-onset acid maltase deficiency

3. Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

4. Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II

5. Two extremes of the clinical spectrum of glycogen storage disease type II in one family: A matter of genotype

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