Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

2003 ◽  
Vol 23 (1) ◽  
pp. 47-56 ◽  
Author(s):  
Monique M.P. Hermans ◽  
Dik van Leenen ◽  
Marian A. Kroos ◽  
Clare E. Beesley ◽  
Ans T. Van der Ploeg ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Genotype Phenotype Correlation

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II

2003 ◽  
Vol 121A (3) ◽  
pp. 225-230 ◽  
Author(s):  
Maria Gabriela Pittis ◽  
Anna Lisa E. Montalvo ◽  
Snjezana Miocic ◽  
Cristina Martini ◽  
Marta Deganuto ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Novel Mutations ◽  
Alpha Glucosidase

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

2007 ◽  
Vol 17 (1) ◽  
pp. 16-22 ◽  
Author(s):  
Rachel E. Palmer ◽  
Hernan M. Amartino ◽  
Gabriela Niizawa ◽  
Mariana Blanco ◽  
Robert J. Pomponio ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Pompe Disease ◽  
Storage Disease ◽  
Clinical Manifestations ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Novel Mutations

Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene

Neurology ◽  
2003 ◽  
Vol 60 (4) ◽  
pp. 715-717 ◽  
Author(s):  
C. W. Lam ◽  
Y. P. Yuen ◽  
K. Y. Chan ◽  
S. F. Tong ◽  
C. K. Lai ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Phenotypic Variability ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Chinese Patient ◽  
Disease Type ◽  
Type Ii ◽  
Novel Mutations ◽  
Juvenile Onset

The authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also a compound heterozygote of the two mutations. These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII.

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry

1998 ◽  
Vol 11 (3) ◽  
pp. 209-215 ◽  
Author(s):  
Monique M. P. Hermans ◽  
Marian A. Kroos ◽  
Jan A. M. Smeitink ◽  
Ans T. van der Ploeg ◽  
Wim J. Kleijer ◽  
...  
Keyword(s):  
Glycogen Storage Disease ◽  
Biochemical Analysis ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Type Ii ◽  
Novel Mutations
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