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41. Full Text Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
by Chien, Yin-Hsiu, MD, PhD and Lee, Ni-Chung, MD, PhD and Chen, Chun-An, MD and Tsai, Fuu-Jen, MD, PhD and Tsai, Wen-Hui, MD, PhD and Shieh, Jeng-Yi, MD, PhD and Huang, Hsiang-Ju, MS and Hsu, Wei-Chung, MD, PhD and Tsai, Tzu-Hsun, MD, PhD and Hwu, Wuh-Liang, MD, PhD
Journal of Pediatrics, The, ISSN 0022-3476, 2015, Volume 166, Issue 4, pp. 985 - 991.e2
Objective To determine the benefit of newborn screening for the long-term prognosis of patients with classic infantile-onset Pompe disease (IOPD). Study design... 
Pediatrics | STORAGE | DYSPHAGIA | ALGLUCOSIDASE ALPHA | SKELETAL-MUSCLE | GLYCOGEN | TAIWAN | PEDIATRICS | ENZYME REPLACEMENT THERAPY | ACID-ALPHA-GLUCOSIDASE | PROGRAM | CHILDREN | Prognosis | Prospective Studies | Survival Rate - trends | Follow-Up Studies | Humans | Glycogen Storage Disease Type II - drug therapy | Infant | Male | Neonatal Screening - methods | Recombinant Proteins | Incidence | alpha-Glucosidases - therapeutic use | Time Factors | Taiwan - epidemiology | Age of Onset | Female | Glycogen Storage Disease Type II - epidemiology | Glycogen Storage Disease Type II - diagnosis | Infant, Newborn | Infants (Newborn) | Medical colleges | Ophthalmology | Medical screening | Medical genetics
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42. Full Text Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
by Papadopoulos, Constantinos and Orlikowski, David and Prigent, Hélène and Lacour, Arnaud and Tard, Céline and Furby, Alain and Praline, Julien and Solé, Guilhem and Hogrel, Jean-Yves and De Antonio, Marie and Semplicini, Claudio and Deibener-Kaminsky, Joelle and Kaminsky, Pierre and Eymard, Bruno and Eymard, B and Taouagh, Nadjib and Perniconi, Barbara and Hamroun, Dalil and Laforêt, Pascal and Bassez, G and Bedat-Millet, A.-L and Behin, A and Leonard-Louis, S and Stojkovic, T and Canal, A and Decostre, V and Bouhour, F and Boyer, F and Caillaud, C and Castaing, Y and Chapon, F and Cintas, P and Durieu, I and Echaniz-Laguna, A and Feasson, L and Ferrer, X and Froissart, R and Piraud, M and Germain, D and Benistan, K and Guffon-Fouilhoux, N and Journel, H and Labauge, P and Levy, A and Magot, A and Péréon, Y and Minot-Myhié, M.-C and Nadaj-Pakleza, A and Nathier, C and Pellegrini, N and Petiot, P and Lofaso, F and Dutry, A and Renard, D and Sacconi, S and Desnuelle, C and Salort-Campana, E and Pouget, J and Tiffreau, V and Vincent, D and Zagnoli, F and The French Pompe Study Grp and French Pompe Study Group
Molecular Genetics and Metabolism, ISSN 1096-7192, 09/2017, Volume 122, Issue 1-2, pp. 80 - 85
The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was... 
Pompe disease | Advanced | Respiratory failure | Enzyme replacement therapy | MEDICINE, RESEARCH & EXPERIMENTAL | ADULT PATIENTS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CONSENSUS | FOLLOW-UP | RESPIRATORY-FAILURE | Humans | Middle Aged | Glycogen Storage Disease Type II - drug therapy | Male | Glycogen Storage Disease Type II - physiopathology | Enzyme Replacement Therapy - adverse effects | Walking | alpha-Glucosidases - adverse effects | alpha-Glucosidases - therapeutic use | alpha-Glucosidases - administration & dosage | Adult | Female | France | Respiration | Late Onset Disorders - drug therapy | Cohort Studies | Enzymes | Health aspects | Biopharmaceutics | Life Sciences
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43. Full Text Glycosidase inhibitors: Update and perspectives on practical use
by Asano, Naoki
Glycobiology, ISSN 0959-6658, 10/2003, Volume 13, Issue 10, pp. 93R - 104R
About 40 years have passed since the classical glycosidase inhibitor nojirimycin was discovered from the cultured broth of the Streptomyces species. Since... 
Glycosidase inhibitors | Antiviral agents | Genetic disorders | Agrochemicals | Antidiabetic agents | PIG-KIDNEY TREHALASE | antiviral agents | GLUCOSYLCERAMIDE SYNTHASE | GLYCOGEN-PHOSPHORYLASE | genetic disorders | BIOCHEMISTRY & MOLECULAR BIOLOGY | LYSOSOMAL ALPHA-GALACTOSIDASE | INFLUENZA-VIRUS NEURAMINIDASE | GLUCOSIDASE INHIBITORS | N-BUTYLDEOXYNOJIRIMYCIN | glycosidase inhibitors | antidiabetic agents | agrochemicals | SULFONIUM SULFATE STRUCTURE | MEDICINE SALACIA-RETICULATA | CYSTIC-FIBROSIS | Hypoglycemic Agents - therapeutic use | Antiviral Agents - chemistry | Antiviral Agents - therapeutic use | Lysosomal Storage Diseases - drug therapy | Enzyme Inhibitors - chemistry | Glycoside Hydrolases - genetics | Hypoglycemic Agents - chemistry | Glycoside Hydrolases - metabolism | Enzyme Inhibitors - therapeutic use | Glycoside Hydrolases - antagonists & inhibitors
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44. Full Text Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
by Ebbink, B.J and Aarsen, F.K and Van Gelder, C.M and Van Den Hout, J.M.P and Weisglas-Kuperus, N and Jaeken, J and Lequin, M.H and Arts, W.F.M and Van Der Ploeg, A.T
Neurology, ISSN 0028-3878, 05/2012, Volume 78, Issue 19, pp. 1512 - 1518
Objective: Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although... 
REPLACEMENT THERAPY | MUSCLE | ACID ALPHA-GLUCOSIDASE | GLYCOGEN-STORAGE | BRAIN | CLINICAL NEUROLOGY | MILK | Enzyme Replacement Therapy | Prospective Studies | Intelligence | Humans | Survivors | Child, Preschool | Glycogen Storage Disease Type II - drug therapy | Infant | Male | Treatment Outcome | Cognition | Glycogen Storage Disease Type II - pathology | Glycogen Storage Disease Type II - psychology | Intelligence Tests | Blood-Brain Barrier - pathology | alpha-Glucosidases - therapeutic use | Brain - pathology | Female | Child
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45. Full Text Clinical resolution of glycogenic hepatopathy following improved glycemic control
by Hudacko, Rachel M and Manoukian, Aram V and Schneider, Stephen H and Fyfe, Billie
Journal of Diabetes and Its Complications, ISSN 1056-8727, 2008, Volume 22, Issue 5, pp. 329 - 330
Abstract Glycogenic hepatopathy is an underrecognized complication of long-standing poorly controlled diabetes mellitus. It is characterized by abnormal... 
Endocrinology & Metabolism | Glycogenosis | Hepatomegaly | Glycogen | Diabetes mellitus | hepatomegaly | diabetes mellitus | glycogen | glycogenosis | ENDOCRINOLOGY & METABOLISM | Hypoglycemic Agents - therapeutic use | Humans | Diabetes Mellitus, Type 1 - pathology | Liver Diseases - pathology | Treatment Outcome | Diabetes Mellitus, Type 1 - complications | Diabetes Mellitus, Type 1 - drug therapy | Blood Glucose - drug effects | Glycogen Storage Disease - pathology | Glycogen Storage Disease - drug therapy | Biopsy | Diabetes Mellitus, Type 1 - blood | Liver Diseases - etiology | Glycogen Storage Disease - etiology | Adult | Female | Liver Diseases - drug therapy | Insulin - therapeutic use | Physiological aspects | Enzymes | Diabetes | Diabetes therapy
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46. Full Text N‑Butyl‑l‑deoxynojirimycin (l‑NBDNJ): Synthesis of an Allosteric Enhancer of α‑Glucosidase Activity for the Treatment of Pompe Disease
by D’Alonzo, Daniele and De Fenza, Maria and Porto, Caterina and Iacono, Roberta and Huebecker, Mylene and Cobucci-Ponzano, Beatrice and Priestman, David A and Platt, Frances and Parenti, Giancarlo and Moracci, Marco and Palumbo, Giovanni and Guaragna, Annalisa
Journal of Medicinal Chemistry, ISSN 0022-2623, 12/2017, Volume 60, Issue 23, pp. 9462 - 9469
The highly stereocontrolled de novo synthesis of l-NBDNJ (the unnatural enantiomer of the iminosugar drug Miglustat) and a preliminary evaluation of its... 
DESIGN | CHEMISTRY, MEDICINAL | SELECTION PROPERTIES | INHIBITION | THERAPY | PHARMACOLOGICAL CHAPERONES | DERIVATIVES | ACCESS | Allosteric Regulation - drug effects | Lysosomes - drug effects | Cell Line | Fibroblasts - enzymology | Stereoisomerism | Humans | Enzyme Inhibitors - pharmacology | 1-Deoxynojirimycin - chemistry | Lysosomes - enzymology | Models, Molecular | Glycogen Storage Disease Type II - drug therapy | 1-Deoxynojirimycin - chemical synthesis | Enzyme Activation - drug effects | Enzyme Inhibitors - chemical synthesis | Glycogen Storage Disease Type II - enzymology | 1-Deoxynojirimycin - pharmacology | Lysosomes - metabolism | Enzyme Inhibitors - chemistry | Fibroblasts - drug effects | Glycogen Storage Disease Type II - metabolism | 1-Deoxynojirimycin - analogs & derivatives | alpha-Glucosidases - metabolism | Fibroblasts - metabolism
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47. Full Text 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy
by Regnery, Caroline and Kornblum, Cornelia and Hanisch, Frank and Vielhaber, Stefan and Strigl-Pill, Nicola and Grunert, Birgit and Müller-Felber, Wolfgang and Glocker, Franz Xaver and Spranger, Matthias and Deschauer, Marcus and Mengel, Eugen and Schoser, Benedikt
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2012, Volume 35, Issue 5, pp. 837 - 845
Glycogen storage disease type 2(GSD2)/Pompe disease is characterized by respiratory and skeletal muscle weakness and atrophy, resulting in functional... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | GENOTYPE-PHENOTYPE CORRELATION | MEDICINE, RESEARCH & EXPERIMENTAL | IMPACT | LYSOSOMAL STORAGE DISEASE | JUVENILE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | SPECTRUM | ACID MALTASE DEFICIENCY | PROGRESSION | FRANCE | CHILDREN | Follow-Up Studies | Humans | Middle Aged | Respiratory Function Tests - methods | Glycogen Storage Disease Type II - drug therapy | Male | Treatment Outcome | Glycogen Storage Disease Type II - enzymology | Enzyme Replacement Therapy - methods | Walking | alpha-Glucosidases - adverse effects | alpha-Glucosidases - therapeutic use | Age of Onset | Creatine Kinase - metabolism | Glycogen Storage Disease Type II - metabolism | Adult | Female | Aged
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48. Full Text Efficient therapy for refractory Pompe disease by mannose 6-phosphate analogue grafting on acid α-glucosidase
by Basile, Ilaria and Da Silva, Afitz and El Cheikh, Khaled and Godefroy, Anastasia and Daurat, Morgane and Harmois, Alice and Perez, Marc and Caillaud, Catherine and Charbonné, Henry-Vincent and Pau, Bernard and Gary-Bobo, Magali and Morère, Alain and Garcia, Marcel and Maynadier, Marie
Journal of Controlled Release, ISSN 0168-3659, 01/2018, Volume 269, pp. 15 - 23
Pompe disease is a rare disorder due to deficiency of the acid α-glucosidase (GAA) treated by enzyme replacement therapy. The present authorized treatment with... 
Alpha acid glucosidase | Lysosomal storage disease | Enzyme replacement therapy | Mannose 6-phosphate receptor targeting | MOTOR FUNCTION DEFICITS | PATHOLOGY | CHEMISTRY, MULTIDISCIPLINARY | SKELETAL-MUSCLE | GLYCOGEN | RECOMBINANT | MOUSE MODEL | PHARMACOLOGY & PHARMACY | MICE | EXPRESSION | RECEPTOR-BINDING | Humans | Cells, Cultured | Glycogen Storage Disease Type II - drug therapy | Muscle, Skeletal - metabolism | Mannosephosphates - administration & dosage | Mice, Knockout | alpha-Glucosidases - genetics | Mannosephosphates - chemistry | Myoblasts - metabolism | Animals | Glycogen - metabolism | alpha-Glucosidases - administration & dosage | Glycogen Storage Disease Type II - metabolism | Adult | alpha-Glucosidases - metabolism | Fibroblasts - metabolism | alpha-Glucosidases - chemistry | Life Sciences | Pharmacology | Pharmaceutical sciences
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49. Full Text Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT
by Banugaria, Suhrad G and Prater, Sean N and Patel, Trusha T and DeArmey, Stephanie M and Milleson, Christie and Sheets, Kathryn B and Bali, Deeksha S and Rehder, Catherine W and Raiman, Julian A. J and Wang, Raymond A and Labarthe, Francois and Charrow, Joel and Harmatz, Paul and Chakraborty, Pranesh and Rosenberg, Amy S and Kishnani, Priya S
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, p. e67052
Objective: Although enzyme replacement therapy (ERT) is a highly effective therapy, CRIM-negative (CN) infantile Pompe disease (IPD) patients typically mount a... 
ANTIBODIES | ALGLUCOSIDASE ALPHA | ACID ALPHA-GLUCOSIDASE | ENZYME REPLACEMENT THERAPY | MULTIDISCIPLINARY SCIENCES | CLINICAL-OUTCOMES | Methotrexate - pharmacology | Clinical Laboratory Techniques | Humans | Glycogen Storage Disease Type II - drug therapy | Infant | Male | Methotrexate - therapeutic use | Enzyme Replacement Therapy - adverse effects | Time Factors | Female | Safety | Infant, Newborn | Immunoglobulins - pharmacology | Rituximab | Treatment Outcome | Glycogen Storage Disease Type II - immunology | Immunoglobulins - administration & dosage | Cross Reactions | Enzyme Replacement Therapy - methods | Immunosuppression | Algorithms | Glycogen Storage Disease Type II - diagnosis | Antibodies, Monoclonal, Murine-Derived - pharmacology | Immunoglobulins - therapeutic use | Early Diagnosis | Antibodies, Monoclonal, Murine-Derived - therapeutic use | Viral antibodies | Antibodies | Enzymes | Methotrexate | Comparative analysis | Therapy | Pediatrics | Intravenous administration | Laboratories | Cardiomyopathy | Medical services | Medical diagnosis | Clinical outcomes | Proteins | Consent | Diagnosis | Immune system | Immunoglobulins | Immune response | Effectiveness | Feasibility studies | Medical screening | Patients | Immunological tolerance | Hospitals | Guardians | Mutation
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50. Full Text Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy
by Broomfield, A and Broomfield, A and Fletcher, J and Fletcher, J and Davison, J and Davison, J and Finnegan, N and Finnegan, N and Fenton, M and Fenton, M and Chikermane, A and Chikermane, A and Beesley, C and Beesley, C and Harvey, K and Harvey, K and Cullen, E and Cullen, E and Stewart, C and Stewart, C and Santra, S and Santra, S and Vijay, S and Vijay, S and Champion, M and Champion, M and Abulhoul, L and Abulhoul, L and Grunewald, S and Grunewald, S and Chakrapani, A and Chakrapani, A and Cleary, M A and Cleary, M A and Jones, S A and Jones, S A and Vellodi, A and Vellodi, A
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 3/2016, Volume 39, Issue 2, pp. 261 - 271
Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been commercially available for almost 10 years. We report the experience of its use in... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ALGLUCOSIDASE ALPHA | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CRIM STATUS | ACID ALPHA-GLUCOSIDASE | NATURAL-HISTORY | DEFICIENCY | CLINICAL-OUTCOMES | CHILDREN | Glycogen Storage Disease Type II - mortality | Humans | Glycogen Storage Disease Type II - drug therapy | Infant | Male | Survival Rate | United Kingdom | Ventricular Dysfunction, Left - mortality | Cross Reactions | Ventricular Dysfunction, Left - metabolism | Enzyme Replacement Therapy - methods | Lysosomes - metabolism | Cardiomyopathies - mortality | Cardiomyopathies - metabolism | Glycogen Storage Disease Type II - metabolism | Female | Retrospective Studies | Enzymes | Biopharmaceutics
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51. Full Text The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease
by Banugaria, Suhrad G and Prater, Sean N and Ng, Yiu-Ki and Kobori, Joyce A and Finkel, Richard S and Ladda, Roger L and Chen, Yuan-Tsong and Rosenberg, Amy S and Kishnani, Priya S
Genetics in Medicine, ISSN 1098-3600, 08/2011, Volume 13, Issue 8, pp. 729 - 736
Purpose: Enzyme replacement therapy with rhGAA (Myozyme (R)) has lead to improved survival, which is largely attributable to improvements in cardiomyopathy and... 
Pompe disease | high-titer CRIM-positive | enzyme replacement therapy | crossreactive immunologic material | CRIM negative | low-titer CRIM-positive | therapeutic proteins | high sustained antibody titers | MUCOPOLYSACCHARIDOSIS-I | TETRASACCHARIDE | INDUCTION | CHILDREN | HEMOPHILIA | ENZYME-REPLACEMENT THERAPY | ALGLUCOSIDASE ALPHA | RECOMBINANT | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | IMMUNE TOLERANCE | Developmental Disabilities | Enzyme Replacement Therapy | Glycoside Hydrolase Inhibitors | Biomarkers - urine | alpha-Glucosidases - immunology | Glycogen Storage Disease Type II - mortality | Hexoses - urine | Humans | Kaplan-Meier Estimate | Organ Size | Glycogen Storage Disease Type II - drug therapy | Infant | Male | Enzyme Assays | alpha-Glucosidases - therapeutic use | Antibodies - blood | Female | Antibodies, Neutralizing - blood | Heart Ventricles - pathology | Infant, Newborn | crossreactive immunologic material (CRIM) | enzyme replacement therapy (ERT) | high sustained antibody titers (HSAT) | high-titer CRIM-positive (HTCP) | CRIM negative (CN) | low-titer CRIM-positive (LTCP)
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52. Full Text Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease
by Nicolino, Marc and Byrne, Barry and Wraith, J.E and Leslie, Nancy and Mandel, Hanna and Freyer, David R and Arnold, Georgianne L and Pivnick, Eniko K and Ottinger, C.J and Robinson, Peter H and Loo, John-Charles A and Smitka, Martin and Jardine, Philip and Tatò, Luciano and Chabrol, Brigitte and McCandless, Shawn and Kimura, Shigemi and Mehta, L and Bali, Deeksha and Skrinar, Alison and Morgan, Claire and Rangachari, Lakshmi and Corzo, Deya and Kishnani, Priya S
Genetics in Medicine, ISSN 1098-3600, 03/2009, Volume 11, Issue 3, pp. 210 - 219
Purpose: A clinical trial was conducted to evaluate the safety and efficacy of alglucosidase alfa in infants and children with advanced Pompe disease. Methods:... 
Pompe disease | Glycogen storage disease type II | Motor development | Cardiomyopathy | Enzyme replacement therapy | Lysosomal acid α-glu-cosidase | Acid maltase deficiency | Myozyme, alglucosidase alfa | Recombinant human GAA | motor development | enzyme replacement therapy | RISK | glycogen storage disease type II | WILMS-TUMOR | lysosomal acid alpha-glucosidase | FETOPROTEIN | alglucosidase alfa | BECKWITH-WIEDEMANN-SYNDROME | Myozyme | acid maltase deficiency | GENETICS & HEREDITY | IDIOPATHIC HEMIHYPERTROPHY | cardiomyopathy | recombinant human GAA | ISOLATED HEMIHYPERPLASIA | Skin Diseases - chemically induced | Body Weight | Cough - chemically induced | Echocardiography | Enzyme-Linked Immunosorbent Assay | Immunoglobulin G - blood | alpha-Glucosidases - immunology | Humans | Kaplan-Meier Estimate | Child, Preschool | Glycogen Storage Disease Type II - drug therapy | Infant | Male | Muscle, Skeletal - metabolism | Treatment Outcome | Glycogen Storage Disease Type II - physiopathology | alpha-Glucosidases - adverse effects | Glycogen - metabolism | alpha-Glucosidases - therapeutic use | Time Factors | Muscle, Skeletal - drug effects | Glycogen Storage Disease Type II - metabolism | Body Height | Female | Index Medicus
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53. Full Text The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts
by Porto, Caterina and Cardone, Monica and Fontana, Federica and Rossi, Barbara and Tuzzi, Maria Rosaria and Tarallo, Antonietta and Barone, Maria Vittoria and Andria, Generoso and Parenti, Giancarlo
Molecular Therapy, ISSN 1525-0016, 06/2009, Volume 17, Issue 6, pp. 964 - 971
In spite of the progress in the treatment of lysosomal storage diseases (LSDs), in some of these disorders the available therapies show limited efficacy and a... 
MEDICINE, RESEARCH & EXPERIMENTAL | SUBSTRATE REDUCTION THERAPY | INFANTILE | MATURATION | GAUCHER-DISEASE | GALACTOSIDASE | TRANSPORT | GENE | G(M1)-GANGLIOSIDOSIS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | MILK | Cell Line | alpha-Galactosidase - therapeutic use | alpha-Galactosidase - pharmacology | Drug Stability | Humans | Enzyme Inhibitors - pharmacology | Glycogen Storage Disease Type II - drug therapy | alpha-Galactosidase - metabolism | alpha-Galactosidase - administration & dosage | Fibroblasts - pathology | Enzyme Inhibitors - therapeutic use | Blotting, Western | 1-Deoxynojirimycin - therapeutic use | Microscopy, Confocal | 1-Deoxynojirimycin - pharmacology | Animals | Lysosomes - metabolism | Fibroblasts - drug effects | 1-Deoxynojirimycin - analogs & derivatives | Biological Transport - drug effects | Mice | Original
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