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1. Full Text Lysosomal storage diseases
by Platt, Frances M and d’Azzo, Alessandra and Davidson, Beverly L and Neufeld, Elizabeth F and Tifft, Cynthia J
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
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2. Full Text Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
by Mechtler, Thomas P, MD and Stary, Susanne, PhD and Metz, Thomas F, MSc and De Jesús, Víctor R, PhD and Greber-Platzer, Susanne, MD and Pollak, Arnold, Prof and Herkner, Kurt R, PhD and Streubel, Berthold, Prof and Kasper, David C, PhD
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
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3. Full Text Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes
by Zampieri, Stefania and Buratti, Emanuele and Dominissini, Silvia and Montalvo, Anna Lisa and Pittis, Maria Gabriela and Bembi, Bruno and Dardis, Andrea
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
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4. Full Text Evasion of Immune Responses to Introduced Human Acid α-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II
by Franco, Luis M and Sun, Baodong and Yang, Xiaoyi and Bird, Andrew and Zhang, Haoyue and Schneider, Ayn and Brown, Talmage and Young, Sarah P and Clay, Timothy M and Amalfitano, Andrea and Chen, Y.T and Koeberl, Dwight D
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
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5. Full Text Autophagy dysregulation in Danon disease
by Nascimbeni, Anna Chiara and Fanin, Marina and Angelini, Corrado and Sandri, Marco
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
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6. Full Text Pompe's disease
by van der Ploeg, Ans T, Dr and Reuser, Arnold JJ, PhD
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
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7. Full Text Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
by Elliott, Susan and Buroker, Norman and Cournoyer, Jason J and Potier, Anna M and Trometer, Joseph D and Elbin, Carole and Schermer, Mack J and Kantola, Jaana and Boyce, Aaron and Turecek, Frantisek and Gelb, Michael H and Scott, C. Ronald
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
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