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1. 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
Lancet, The, ISSN 0140-6736, 2012, Volume 379, Issue 9813, pp. 335 - 341
Summary Background The interest in neonatal screening for lysosomal storage disorders has increased substantially because of newly developed enzyme replacement... 
Internal Medicine | POMPE-DISEASE | DIAGNOSIS | MEDICINE, GENERAL & INTERNAL | THERAPY | ASSAY | METABOLISM | FABRY-DISEASE | TANDEM MASS-SPECTROMETRY | DRIED BLOOD SPOTS | KRABBE-DISEASE | INBORN-ERRORS | 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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2. Full Text Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan
by Liao, Hsuan-Chieh and Chiang, Chuan-Chi and Niu, Dau-Ming and Wang, Chung-Hsing and Kao, Shu-Min and Tsai, Fuu-Jen and Huang, Chun-Kai and Huang, Yu-Hsiu and Liu, Hao-Chuan and Gao, He-Jin and Yang, Chia-Feng and Chan, Min-Ju and Lin, Wei-De and Chen, Yann-Jang
Clinica Chimica Acta, ISSN 0009-8981, 04/2014, Volume 431, pp. 80 - 86
Interest in lysosomal storage diseases in newborn screening programs has increased in recent years. Two techniques, fluorescence (4-MU) and tandem mass... 
Pompe disease | Newborn screening | Fabry disease | Tandem mass spectrometry | Gaucher disease | Lysosomal storage disease | POMPE-DISEASE | MUCOPOLYSACCHARIDOSIS-I | ASSAY | DISORDERS | FABRY-DISEASE | DRIED BLOOD SPOTS | GAUCHER-DISEASE | FILTER-PAPER | MEDICAL LABORATORY TECHNOLOGY | ENZYME REPLACEMENT THERAPY | ALPHA-GALACTOSIDASE | Reproducibility of Results | Glycogen Storage Disease Type II - genetics | Fabry Disease - genetics | Dried Blood Spot Testing | Humans | Male | Neonatal Screening | Sequence Analysis, DNA | DNA - genetics | Lysosomal Storage Diseases - diagnosis | Tandem Mass Spectrometry | Pilot Projects | Gaucher Disease - genetics | Taiwan | Female | Glycogen Storage Disease Type II - diagnosis | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Infant, Newborn | Quality Control | Metabolism, Inborn errors of | Fluorescence | Mass spectrometry | Index Medicus
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3. Full Text Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy
by Arad, Michael and Maron, Barry J and Gorham, Joshua M and Johnson, Walter H and Saul, J. Philip and Perez-Atayde, Antonio R and Spirito, Paolo and Wright, Gregory B and Kanter, Ronald J and Seidman, J.G and Seidman, Christine E
The New England Journal of Medicine, ISSN 0028-4793, 01/2005, Volume 352, Issue 4, pp. 362 - 372
Hypertrophic cardiomyopathy is usually caused by mutations in sarcomere proteins, but in some patients such mutations are not found. This study identified... 
PARKINSON-WHITE-SYNDROME | MEDICINE, GENERAL & INTERNAL | DANON-DISEASE | GENE | SUDDEN-DEATH | MUTATIONS | IDENTIFICATION | LEFT-VENTRICULAR HYPERTROPHY | DEFICIENCY | ACID MALTASE | Fabry Disease - genetics | Glycogen Storage Disease - complications | Humans | Middle Aged | Male | Antigens, CD - genetics | AMP-Activated Protein Kinases | Glycogen Storage Disease Type II - complications | Glycogen - metabolism | Electrocardiography | Adult | Female | Glycogen Storage Disease - diagnosis | Cardiomyopathy, Hypertrophic - etiology | Child | Lysosome-Associated Membrane Glycoproteins | Cardiomyopathy, Hypertrophic - genetics | Diagnosis, Differential | Glycogen Storage Disease Type II - genetics | Hypertrophy, Left Ventricular - etiology | Protein-Serine-Threonine Kinases - genetics | Myocardium - pathology | Multienzyme Complexes - genetics | Algorithms | Glycogen Storage Disease - genetics | Cardiomyopathy, Hypertrophic - physiopathology | Pedigree | Adolescent | Aged | Mutation | Lysosomal-Associated Membrane Protein 2 | Cardiomyopathy, Hypertrophic - pathology | Risk factors | Glycogenosis | Cardiomyopathy, Hypertrophic | Proteins | Kinases | Index Medicus | Abridged Index Medicus
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4. Full Text Autophagy dysregulation in Danon disease
by Nascimbeni, Anna Chiara and Fanin, Marina and Angelini, Corrado and Sandri, Marco
Cell Death and Disease, ISSN 2041-4889, 2017, Volume 8, Issue 1, pp. e2565 - e2565
The autophagy-lysosome system is critical for muscle homeostasis and defects in lysosomal function result in a number of inherited muscle diseases, generally... 
SKELETAL-MUSCLE ATROPHY | MYOPATHIES | GLYCOGEN-STORAGE-DISEASE | CHAPERONE-MEDIATED AUTOPHAGY | CARDIOMYOPATHY | TFEB | POMPE DISEASE | ATROGIN-1 | DEFICIENCY | LYSOSOMAL BIOGENESIS | 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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5. Full Text Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease
by Raben, Nina and Hill, Victoria and Shea, Lauren and Takikita, Shoichi and Baum, Rebecca and Mizushima, Noboru and Ralston, Evelyn and Plotz, Paul
Human Molecular Genetics, ISSN 0964-6906, 12/2008, Volume 17, Issue 24, pp. 3897 - 3908
The role of autophagy, a catabolic lysosome-dependent pathway, has recently been recognized in a variety of disorders, including Pompe disease, the genetic... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | GLYCOGEN AUTOPHAGY | GENE-EXPRESSION | NEWBORN RATS | ACID ALPHA-GLUCOSIDASE | MICE | STORAGE-DISEASE | ENZYME REPLACEMENT THERAPY | SELF-DIGESTION | CELL-DEATH | Muscle, Skeletal - enzymology | Glycogen Storage Disease Type II - genetics | Muscular Diseases - metabolism | Male | Mice, Transgenic | Muscle, Skeletal - metabolism | Muscular Diseases - pathology | Glycogen Storage Disease Type II - pathology | Mice, Knockout | Muscular Diseases - etiology | Glycogen Storage Disease Type II - enzymology | Proteins - genetics | alpha-Glucosidases - genetics | Animals | Proteins - metabolism | alpha-Glucosidases - deficiency | Proteins - adverse effects | Female | Mice | Autophagy - genetics | Muscle, Skeletal - pathology | Ubiquitination - genetics | Index Medicus
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6. Full Text A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes
by Tiels, Petra and Baranova, Ekaterina and Piens, Kathleen and De Visscher, Charlotte and Pynaert, Gwenda and Nerinckx, Wim and Stout, Jan and Fudalej, Franck and Hulpiau, Paco and Tännler, Simon and Geysens, Steven and Van Hecke, Annelies and Valevska, Albena and Vervecken, Wouter and Remaut, Han and Callewaert, Nico
Nature Biotechnology, ISSN 1087-0156, 12/2012, Volume 30, Issue 12, pp. 1225 - 1231
Lysosomal storage diseases are treated with human lysosomal enzymes produced in mammalian cells. Such enzyme therapeutics contain relatively low levels of... 
N-LINKED OLIGOSACCHARIDES | POMPE-DISEASE | YARROWIA-LIPOLYTICA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MOUSE MODEL | STORAGE DISORDERS | ACID ALPHA-GLUCOSIDASE | PICHIA-PASTORIS | FABRY-DISEASE | SACCHAROMYCES-CEREVISIAE | MANNOSE 6-PHOSPHATE RECEPTORS | Biotechnology | Lysosomal Storage Diseases - enzymology | Glycoside Hydrolases - genetics | Humans | Lysosomes - enzymology | Molecular Sequence Data | Glycogen Storage Disease Type II - drug therapy | Pichia - enzymology | Glycogen Storage Disease Type II - enzymology | Arthrobacter - genetics | Biological Transport, Active | Lysosomal Storage Diseases - drug therapy | Glycoside Hydrolases - chemistry | Yarrowia - enzymology | Arthrobacter - enzymology | Yarrowia - genetics | Disease Models, Animal | Recombinant Proteins - metabolism | Mutagenesis, Site-Directed | Glycogen Storage Disease Type II - genetics | Bacterial Proteins - genetics | Catalytic Domain - genetics | Lysosomal Storage Diseases - genetics | Models, Molecular | Recombinant Proteins - genetics | Mice, Knockout | alpha-Glucosidases - genetics | Animals | Mannosephosphates - metabolism | alpha-Glucosidases - deficiency | Pichia - genetics | Bacterial Proteins - metabolism | Protein Conformation | Mice | Glycoside Hydrolases - metabolism | alpha-Glucosidases - metabolism | Physiological aspects | Lysosomes | Enzymes | Glycosidases | Bacteria | Biosynthesis | Biochemistry | Yeast | Metabolic disorders | Index Medicus
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7. Full Text Glycosylation-independent Lysosomal Targeting of Acid alpha-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice
by Maga, JA and Zhou, JH and Kambampati, R and Peng, S and Wang, X and Bohnsack, RN and Thomm, A and Golata, S and Tom, P and Dahms, NM and Byrne, BJ and LeBowitz, JH
JOURNAL OF BIOLOGICAL CHEMISTRY, ISSN 0021-9258, 01/2013, Volume 288, Issue 3, pp. 1428 - 1438
We have used a peptide-based targeting system to improve lysosomal delivery of acid alpha-glucosidase (GAA), the enzyme deficient in patients with Pompe... 
INSULIN | STORAGE | ALGLUCOSIDASE ALPHA | ENZYME | RECOMBINANT | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | DISEASE | II BINDING-SITE | MANNOSE 6-PHOSPHATE RECEPTOR | INFANTILE | Humans | Mutant Chimeric Proteins - genetics | Half-Life | Lysosomes - enzymology | Glycogen Storage Disease Type II - drug therapy | Receptor, IGF Type 2 - metabolism | Glycogen Storage Disease Type II - enzymology | Myoblasts - drug effects | Glycogen - metabolism | Insulin-Like Growth Factor II - genetics | Transfection | Muscle, Skeletal - drug effects | Mutant Chimeric Proteins - metabolism | HEK293 Cells | Biological Transport - drug effects | Disease Models, Animal | Lysosomes - drug effects | Glucan 1,4-alpha-Glucosidase - genetics | Muscle, Skeletal - enzymology | Glycogen Storage Disease Type II - genetics | Glycosylation | Myoblasts - pathology | Insulin-Like Growth Factor II - metabolism | Receptor, IGF Type 2 - agonists | Enzyme Replacement Therapy - methods | Animals | Plasmids | Glucan 1,4-alpha-Glucosidase - metabolism | Mice | Kinetics | Muscle, Skeletal - pathology | Drug Delivery Systems - methods | Myoblasts - enzymology | Index Medicus | Molecular Bases of Disease | Enzyme Replacement Therapy | Glycogen | CI-MPR | Pompe | Muscle | Receptor Endocytosis | Lysosomal Storage Disease | Muscular Dystrophy | Glycogen Storage Disease | IGF-II
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8. Full Text Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness
by Lukacs, Zoltan and Nieves Cobos, Paulina and Wenninger, Stephan and Willis, Tracey A and Guglieri, Michela and Roberts, Marc and Quinlivan, Rosaline and Hilton-Jones, David and Evangelista, Teresinha and Zierz, Stephan and Schlotter-Weigel, Beate and Walter, Maggie C and Reilich, Peter and Klopstock, Thomas and Deschauer, Marcus and Straub, Volker and Müller-Felber, Wolfgang and Schoser, Benedikt
Neurology, ISSN 0028-3878, 07/2016, Volume 87, Issue 3, pp. 295 - 298
OBJECTIVE:We prospectively screened a large European cohort of patients presenting with hyperCKemia and/or limb-girdle muscular weakness (LGMW) for acid... 
DIAGNOSIS | CLINICAL NEUROLOGY | DRIED BLOOD | Prevalence | Dried Blood Spot Testing | Humans | Middle Aged | Muscular Dystrophies, Limb-Girdle - complications | Male | Muscular Dystrophies, Limb-Girdle - enzymology | Young Adult | Glycogen Storage Disease Type II - complications | Muscular Dystrophies, Limb-Girdle - genetics | Muscular Dystrophies, Limb-Girdle - epidemiology | Aged, 80 and over | Adult | Female | Glycogen Storage Disease Type II - blood | alpha-Glucosidases - blood | Creatine Kinase - blood | Glycogen Storage Disease Type II - genetics | Germany - epidemiology | alpha-Glucosidases - genetics | Phenotype | alpha-Glucosidases - deficiency | Adolescent | Aged | Glycogen Storage Disease Type II - epidemiology | Mutation | United Kingdom - epidemiology | Index Medicus | Abridged Index Medicus | 176 | 160 | 185 | 153
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9. Full Text Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial
by Strothotte, S and Strigl-Pill, N and Grunert, B and Kornblum, C and Eger, K and Wessig, C and Deschauer, M and Breunig, F and Glocker, F X and Vielhaber, S and Brejova, A and Hilz, M and Reiners, K and Müller-Felber, W and Mengel, E and Spranger, M and Schoser, Benedikt
Journal of Neurology, ISSN 0340-5354, 1/2010, Volume 257, Issue 1, pp. 91 - 97
Late-onset glycogen storage disease type 2 (GSD2)/Pompe disease is a progressive multi-system disease evoked by a deficiency of lysosomal acid α-glucosidase... 
Pompe disease | Neurology | Neurosciences | Medicine & Public Health | Alglucosidase alfa | Enzyme replacement therapy | Glycogen storage disease type 2 | Neuroradiology | POMPE-DISEASE | GLUCOSIDASE | FOLLOW-UP | RECEPTORS | CLINICAL NEUROLOGY | Severity of Illness Index | Injections, Intravenous | Glycogen Storage Disease Type II - genetics | Humans | Middle Aged | European Continental Ancestry Group | Glycogen Storage Disease Type II - drug therapy | Male | Treatment Outcome | Enzyme Replacement Therapy - adverse effects | Glycogen Storage Disease Type II - enzymology | Young Adult | Enzyme Replacement Therapy - methods | alpha-Glucosidases - adverse effects | alpha-Glucosidases - therapeutic use | Time Factors | alpha-Glucosidases - administration & dosage | Age of Onset | Creatine Kinase - metabolism | Adult | Female | Surveys and Questionnaires | Aged | Enzymes | Care and treatment | Glycogenosis | Research | Health aspects | Patient outcomes | Index Medicus
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10. Full Text Genotype-phenotype correlation in Pompe disease, a step forward
by De Filippi, Paola and Saeidi, Kolsoum and Ravaglia, Sabrina and Dardis, Andrea and Angelini, Corrado and Mongini, Tiziana and Morandi, Lucia and Moggio, Maurizio and Di Muzio, Antonio and Filosto, Massimiliano and Bembi, Bruno and Giannini, Fabio and Marrosu, Giovanni and Rigoldi, Miriam and Tonin, Paola and Servidei, Serenella and Siciliano, Gabriele and Carlucci, Annalisa and Scotti, Claudia and Comelli, Mario and Toscano, Antonio and Danesino, Cesare and Italian GSDII Grp
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 08/2014, Volume 9, Issue 1, pp. 102 - 102
Background: Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability... 
Glycogen storage disease type II | Modifier genes | ACE | ACTN3 | GAA | Genetic polymorphisms | MEDICINE, RESEARCH & EXPERIMENTAL | ACE GENE | POLYMORPHISM | IDENTIFICATION | I ALLELE | SKELETAL-MUSCLE | MUTATION | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | GAA GENE | CONVERTING-ENZYME GENE | ALPHA-ACTININ-3 DEFICIENCY | Angiotensinogen - genetics | Peptidyl-Dipeptidase A - genetics | Phenotype | Glycogen Storage Disease Type II - genetics | Actinin - genetics | Humans | Genotype | PPAR alpha - genetics | Mutation | Glycogen Storage Disease Type II - physiopathology | Physiological aspects | Enzymes | Genetic aspects | DNA | Analysis | Medical research | Creatine kinase | Glycogen | Genes | Medicine, Experimental | Creatine | Neurology | Genotype & phenotype | Neurosciences | Neuromuscular diseases | Disease | Colleges & universities | Science | Anesthesiology | Metabolic disorders | Age | Index Medicus
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11. Full Text Pompe disease: Design, methodology, and early findings from the Pompe Registry
by Byrne, Barry J and Kishnani, Priya S and Case, Laura E and Merlini, Luciano and Müller-Felber, Wolfgang and Prasad, Suyash and der Ploeg, Ans van
Molecular Genetics and Metabolism, ISSN 1096-7192, 2011, Volume 103, Issue 1, pp. 1 - 11
Pompe disease is an autosomal recessive, progressive, debilitating, and often fatal neuromuscular disorder caused by deficiency of lysosomal acid α-glucosidase... 
Pompe disease | Lysosomal acid α-glucosidase | Glycogen storage disease type II | Acid maltase deficiency | Registry | Cardiomyopathy | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | ALPHA-GLUCOSIDASE | ADULT | CHILDREN | ALGLUCOSIDASE ALPHA | Lysosomal acid alpha-glucosidase | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DISABILITY | TERM-FOLLOW-UP | NATURAL COURSE | ENZYME REPLACEMENT THERAPY | Glycogen Storage Disease Type II - genetics | Humans | Child, Preschool | Infant | Male | Lung - physiopathology | Mutation - genetics | Glycogen Storage Disease Type II - physiopathology | Age of Onset | Female | Registries | Glycogen Storage Disease Type II - epidemiology | Glycogen Storage Disease Type II - diagnosis | Child | Index Medicus
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12. Full Text A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations
by Herzog, Ane and Hartung, Ralf and Reuser, Arnold and Hermanns, Thomas and Runz, Heiko and Karabul, N and Gökce, Seyfullah and Pohlenz, Joachim and Kampmann, Christoph and Lampe, Christina and Beck, Markus and Mengel, E
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 | Index Medicus
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