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pädiatrie: Kinder- und Jugendmedizin hautnah, ISSN 1867-2132, 12/2016, Volume 28, Issue 6, pp. 54 - 54
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 72 - 72
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 06/2012, Volume 7, Issue 1, pp. 35 - 35
textabstractBackground: Pompe disease (Glycogen storage disease type II, GSD II, acid alpha-glucosidase deficiency, acid maltase deficiency, OMIM # 232300) is... 
Pompe disease | Genotype phenotype correlations | Lysosomal storage diseases | Glycogen storage disease type II | Enzyme replacement therapy | GAA | MEDICINE, RESEARCH & EXPERIMENTAL | MALTASE DEFICIENCY | NATURAL-HISTORY | SKELETAL-MUSCLE | ALGLUCOSIDASE ALPHA | GLYCOGEN-STORAGE-DISEASE | MUTATION | FREQUENCY | INFANTS | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | ONSET | Enzyme Replacement Therapy | Cardiomyopathy, Hypertrophic - genetics | Genetic Predisposition to Disease | Cross-Sectional Studies | Genetic Association Studies | Glycogen Storage Disease Type II - genetics | Humans | Middle Aged | Male | Cardiomyopathy, Hypertrophic - enzymology | Glycogen Storage Disease Type II - therapy | Glycogen Storage Disease Type II - physiopathology | Glycogen Storage Disease Type II - enzymology | Young Adult | alpha-Glucosidases - genetics | Cardiomyopathy, Hypertrophic - physiopathology | Muscle, Skeletal - physiopathology | Adolescent | Adult | Female | Mutation | Cardiomyopathy, Hypertrophic - therapy | Germany | Infant, Newborn | Glycogenosis | Gene mutations | Genetic aspects | Research | Diagnosis | Health aspects | Risk factors | Medical research | Amylases | Locomotives | Glycogen | Analysis | Genes | Medicine, Experimental | Muscles | Amino acids | Development and progression | Biotechnology industry | Genotype & phenotype | Manuscripts
Journal Article
Journal Article
IEEE Journal on Selected Areas in Communications, ISSN 0733-8716, 07/2016, Volume 34, Issue 7, pp. 1935 - 1952
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2016, Volume 11, Issue 9, p. e0162612
Journal Article