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Human Molecular Genetics, ISSN 0964-6906, 10/2019, Volume 28, Issue R1, pp. R31 - R41
Abstract The focus of this review is the development of gene therapy for glycogen storage diseases (GSDs). GSD results from the deficiency of specific enzymes... 
MCARDLE-DISEASE | III DIAGNOSIS | ONSET POMPE DISEASE | EMERGING PHENOTYPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ADENOASSOCIATED VIRUS VECTORS | SUSTAINED EXPRESSION | ACID ALPHA-GLUCOSIDASE | CLEARS GLYCOGEN | IMMUNE TOLERANCE | SYSTEMIC CORRECTION
Journal Article
NEUROLOGY, ISSN 0028-3878, 11/2008, Volume 71, Issue 21, pp. 1748 - 1748
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2006, Volume 8, Issue 5, pp. 267 - 288
Journal Article
Cellular Immunology, ISSN 0008-8749, 08/2019, Volume 342, p. 103737
Pompe disease is caused by mutations in acid alpha glucosidase ( ) that causes accumulation of lysosomal glycogen affecting the heart and skeletal muscles, and... 
Pompe disease | Enzyme replacement therapy | Immune tolerance | Acid alpha-glucosidase | Glycogen storage disease | Gene therapy | Antibody response | HEPATIC EXPRESSION | TOLERANCE INDUCTION | EMERGING PHENOTYPE | ADENOASSOCIATED VIRUS VECTOR | IMMUNOLOGY | HEMOPHILIA-B DOGS | CELL BIOLOGY | ALGLUCOSIDASE ALPHA | FACTOR-IX
Journal Article
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 02/2012, Volume 160C, Issue 1, pp. 69 - 79
Enzyme replacement therapy (ERT) with alglucosidase alpha, approved by the FDA in 2006, has expanded possibilities for individuals with Pompe disease (glycogen... 
residual weakness | ALPHA-GLUCOSIDASE | MUSCLE | PHENOTYPE | physical therapy and exercise | NATURAL-HISTORY | ACID MALTASE DEFICIENCY | ALGLUCOSIDASE ALPHA | emerging phenotype | GLYCOGEN-STORAGE-DISEASE | GENETICS & HEREDITY | TERM-FOLLOW-UP | DUCHENNE MUSCULAR-DYSTROPHY | Pompe disease on ERT | ENZYME REPLACEMENT THERAPY | musculoskeletal management
Journal Article
GENETICS IN MEDICINE, ISSN 1098-3600, 11/2017, Volume 19, Issue 11, pp. 1281 - 1282
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2010, Volume 99, Issue 1, pp. 26 - 33
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, ISSN 1552-4868, 02/2012, Volume 160C, Issue 1, pp. 1 - 7
Pompe disease is an autosomal recessive neuromuscular disorder marked by progressive muscle weakness due to lysosomal buildup of glycogen. Presentation is... 
Pompe disease | acid a-glucosidase deficiency | glycogen storage disease type II | MALTASE DEFICIENCY | lysosomal storage disorder | CHILDREN | ALGLUCOSIDASE ALPHA | GLYCOGEN | acid maltase deficiency | INFANTS | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | glycogenosis | ENZYME REPLACEMENT THERAPY | ARTERIOPATHY | ONSET | CLINICAL-OUTCOMES
Journal Article
Neurology, ISSN 0028-3878, 2007, Volume 68, Issue 2, pp. 99 - 109
Background: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA).... 
TRIAL | ENZYME THERAPY | NEUTRALIZING ANTIBODIES | CLINICAL NEUROLOGY | GAUCHER-DISEASE | RABBIT MILK
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 01/2009, Volume 360, Issue 2, pp. 194 - 195
Journal Article
Pediatric Endocrinology Reviews, ISSN 1565-4753, 09/2014, Volume 12, pp. 114 - 124
Journal Article