UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.
Search Articles
Nature reviews. Disease primers, ISSN 2056-676X, 12/2018, Volume 4, Issue 1, pp. 27 - 27
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Leukodystrophy, Metachromatic - genetics | Leukodystrophy, Metachromatic - epidemiology | Gaucher Disease - genetics | Fabry Disease - epidemiology | Glycogen Storage Disease Type II - genetics | Fabry Disease - genetics | Humans | Lysosomal Storage Diseases - epidemiology | Gaucher Disease - epidemiology | Lysosomal Storage Diseases - genetics | Glycogen Storage Disease Type II - epidemiology | Proteins - analysis | Enzymes | Neurodegeneration | Genetic disorders | Index Medicus
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Public health. Hygiene-occupational medicine | Public health. Hygiene | General aspects | Prevention and actions | Biological and medical sciences | Medical sciences | Epidemiology | alpha-Galactosidase - genetics | Sphingomyelin Phosphodiesterase - genetics | Glucosylceramidase - genetics | Fabry Disease - genetics | Glucosylceramidase - blood | Humans | Male | Neonatal Screening | Incidence | Lysosomal Storage Diseases - diagnosis | Female | Niemann-Pick Diseases - diagnosis | Niemann-Pick Diseases - genetics | Infant, Newborn | alpha-Glucosidases - blood | Glycogen Storage Disease Type II - genetics | Lysosomal Storage Diseases - epidemiology | Austria - epidemiology | Lysosomal Storage Diseases - genetics | alpha-Galactosidase - blood | alpha-Glucosidases - genetics | Gaucher Disease - genetics | Glycogen Storage Disease Type II - diagnosis | Mutation | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Sphingomyelin Phosphodiesterase - blood | Metabolism, Inborn errors of | Infants (Newborn) | Usage | Medical examination | Diagnosis | Research | Babies | Quality control | Cystic fibrosis | Medical screening | Metabolism | Disease control | Blood | Metabolic disorders | Index Medicus | Abridged Index Medicus
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2011, Volume 19, Issue 4, pp. 422 - 431
GAA gene | phenotype/genotype correlation | splicing mutations | glycogenosis type II | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Errors of metabolism | Medical genetics | Biological and medical sciences | Metabolic diseases | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Carbohydrates (enzymatic deficiencies). Glycogenosis | Cell Line | Mutagenesis, Site-Directed | Glycogen Storage Disease Type II - genetics | Exons | Introns | Humans | Computational Biology | Mutation - genetics | Glycogen Storage Disease Type II - pathology | alpha-Glucosidases - genetics | Phenotype | DNA Mutational Analysis | alpha-Glucosidases - deficiency | RNA Splicing - genetics | Enzymes | Phenotypes | Automation | Acids | Splicing | Glycogen | Genetics | mRNA | Mutation | Variation | Patients | Hereditary diseases | Index Medicus | phenotype | genotype correlation
Journal Article
Molecular therapy, ISSN 1525-0016, 11/2005, Volume 12, Issue 5, pp. 876 - 884
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dependovirus - genetics | Gene Transfer Techniques | Genetic Therapy | Promoter Regions, Genetic | Creatine Kinase | Genetic Vectors - administration & dosage | Creatine Kinase, MM Form - metabolism | alpha-Glucosidases - immunology | Humans | Liver - metabolism | Muscle, Skeletal - metabolism | Glycogen Storage Disease Type II - immunology | Glycogen Storage Disease Type II - therapy | Genetic Vectors - genetics | Mice, Knockout | Animals | Glycogen - metabolism | Enhancer Elements, Genetic | Plasmids - genetics | Antibody Formation | Glycogen Storage Disease Type II - metabolism | Mice | alpha-Glucosidases - biosynthesis | DNA, Viral | Index Medicus
Journal Article
Cell death & disease, ISSN 2041-4889, 2017, Volume 8, Issue 1, pp. e2565 - e2565
Life Sciences & Biomedicine | Science & Technology | Cell Biology | Glycogen Storage Disease Type IIb - genetics | Vacuolar Sorting Protein VPS15 - genetics | Glycogen Storage Disease Type II - genetics | Humans | Lysosomal-Associated Membrane Protein 2 - genetics | Lysosomes - genetics | Male | Glycogen Storage Disease Type IIb - pathology | Glycogen Storage Disease Type II - pathology | Glycogen Storage Disease Type IIb - metabolism | Muscles - pathology | Animals | Adolescent | Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics | Glycogen Storage Disease Type II - metabolism | Adult | Female | Lysosomes - pathology | Mice | Autophagy - genetics | Mutation | Muscles - metabolism | Disease Models, Animal | Transcription factors | Biosynthesis | Autophagy | Genes | Muscular dystrophy | Index Medicus | Original
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2008, Volume 372, Issue 9646, pp. 1342 - 1353
Internal Medicine | Recombinant Proteins - therapeutic use | Prognosis | Glycogen Storage Disease Type II - genetics | Humans | Genotype | Glycogen Storage Disease Type II - drug therapy | Treatment Outcome | Disease Progression | Glycogen Storage Disease Type II - physiopathology | alpha-Glucosidases - therapeutic use | Adult | Glycogen Storage Disease Type II - diagnosis | Child | Care and treatment | Glycogenosis | Diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Molecular genetics and metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 304 - 309
Pompe disease | Tandem mass spectrometry | Hurler disease | Gaucher disease | Lysosomal storage disorders | Krabbe disease | Niemann-Pick-A/B disease | Dried blood spot | Newborn screening | Fabry disease | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Mucopolysaccharidosis I - physiopathology | Male | Gaucher Disease - blood | Neonatal Screening | Leukodystrophy, Globoid Cell - physiopathology | Tandem Mass Spectrometry | Fabry Disease - blood | Female | Gaucher Disease - physiopathology | Lysosomal Storage Diseases - blood | Galactosylceramidase - blood | Glycogen Storage Disease Type II - blood | Infant, Newborn | Lysosomal Storage Diseases - classification | Mucopolysaccharidosis I - blood | alpha-Glucosidases - blood | Niemann-Pick Diseases - blood | Lysosomal Storage Diseases - genetics | Enzyme Assays | Niemann-Pick Diseases - physiopathology | Lysosomal Storage Diseases - pathology | Glycogen Storage Disease Type II - physiopathology | alpha-Galactosidase - blood | Fabry Disease - physiopathology | Iduronidase - blood | Leukodystrophy, Globoid Cell - blood | Sphingomyelin Phosphodiesterase - blood | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Index Medicus | Niemann-Pick-A | B disease
Journal Article