Add to ORKGThe findings described in this thesis are a step forward in the diagnosis and understanding of Pompe disease with emphasis on the genotype-phenotype correlation
BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alph...
Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mu...
Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glu...
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphagluc...
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphagluc...
Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the...
Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen fo...
[Background] Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic va...
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular a...
Background: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficien...
textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosid...
Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...
The main subject addressed in this thesis is the genotype-phenotype relationship in Pompe disease. P...
Pompe disease is a progressive metabolic myopathy. It is caused by a deficiency of the enzyme acid α...
BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alph...
Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mu...
Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glu...
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphagluc...
Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphagluc...
Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the...
Measurement of alpha-glucosidase activity on dried blood spots has been the main method to screen fo...
[Background] Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic va...
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular a...
Background: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficien...
textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosid...
Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessi...
The main subject addressed in this thesis is the genotype-phenotype relationship in Pompe disease. P...
Pompe disease is a progressive metabolic myopathy. It is caused by a deficiency of the enzyme acid α...
BackgroundPompe disease is a lysosomal storage disorder caused by the deficiency of enzyme acid alph...
Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mu...
Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glu...