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1. 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
There is current expansion of newborn screening (NBS) programs to include lysosomal storage disorders because of the availability of treatments that produce an... 
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 | MEDICINE, RESEARCH & EXPERIMENTAL | MUCOPOLYSACCHARIDOSIS-I | ASSAY | DISORDERS | CARDS | DRIED BLOOD SPOTS | RETROSPECTIVE DIAGNOSES | ENZYMES | FABRY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | FILTER-PAPER | ENZYMATIC DIAGNOSIS | 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 | Niemann-Pick-A | B disease
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2. Full Text Targeted Delivery of Proteins across the Blood-Brain Barrier
by Brian J. Spencer and Inder M. Verma
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2007, Volume 104, Issue 18, pp. 7594 - 7599
Treatment of many neuronal degenerative disorders will require delivery of a therapeutic protein to neurons or glial cells across the whole CNS. The presence... 
Proteins | Laboratory staining techniques | Receptors | Genetic vectors | Neurons | Purkinje cells | Astrocytes | Central nervous system | Recombinant proteins | Endothelial cells | Lentiviral vectors | Fusion protein | Low-density lipoprotein receptor | DOMAIN | low-density lipoprotein receptor | lentiviral vectors | MULTIDISCIPLINARY SCIENCES | RECEPTOR | IDENTIFICATION | APOLIPOPROTEIN B100 | fusion protein | NEUN | BIOLOGY | CENTRAL-NERVOUS-SYSTEM | BINDING | LIPOPROTEINS | Recombinant Proteins - metabolism | Glucosylceramidase - genetics | Animals | Endothelial Cells - metabolism | Humans | Lentivirus - genetics | Glucosylceramidase - metabolism | Mice | Recombinant Proteins - genetics | Genetic Vectors - genetics | Blood-Brain Barrier - metabolism | Blood-brain barrier | Low density lipoprotein receptors | Research | Biological Sciences
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3. 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
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4. Full Text Plasma Ceramide and Glucosylceramide Metabolism Is Altered in Sporadic Parkinson's Disease and Associated with Cognitive Impairment: A Pilot Study
by Mielke, Michelle M and Maetzler, Walter and Haughey, Norman J and Bandaru, Veera V. R and Savica, Rodolfo and Deuschle, Christian and Gasser, Thomas and Hauser, Ann-Kathrin and Gräber-Sultan, Susanne and Schleicher, Erwin and Berg, Daniela and Liepelt-Scarfone, Inga
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, p. e73094
Background: Mutations in the gene coding for glucocerebrosidase (GBA), which metabolizes glucosylceramide (a monohexosylceramide) into glucose and ceramide, is... 
ALZHEIMER-DISEASE | CELLS | DEMENTIA | RELEVANCE | INCREASE | MULTIDISCIPLINARY SCIENCES | SOCIETY TASK-FORCE | LEWY BODY DISEASE | DEATH | GLUCOCEREBROSIDASE MUTATIONS | GAUCHER-DISEASE | Lactosylceramides - blood | Severity of Illness Index | Glucosylceramidase - genetics | Cerebrosides - blood | Humans | Middle Aged | Ceramides - blood | Dementia - physiopathology | Genotype | Male | Cognition | Biomarkers - blood | Parkinson Disease - genetics | Dementia - genetics | Parkinson Disease - physiopathology | Case-Control Studies | Antigens, CD - blood | Female | Aged | Dementia - blood | Mutation | Parkinson Disease - blood | Medical research | Enzymes | Physiological aspects | Medicine, Experimental | Lipids | Hydrolases | Genetic aspects | Plasma | Parkinson's disease | Cognitive ability | Parkinsons disease | Impairment | Family medical history | Risk factors | Ceramide | Dementia disorders | Lipid metabolism | Movement disorders | Task forces | Neurodegenerative diseases | Health risks | Metabolism | Patients | Carriers | Neurology | Brain research | Womens health | Biomarkers | Glucosylceramidase | Plasma levels | Alzheimers disease | Dementia
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5. Full Text Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening
by Li, Yijun and Scott, C. Ronald and Chamoles, Nestor A and Ghavami, Ahmad and Pinto, B. Mario and Turecek, Frantisek and Gelb, Michael H
Clinical Chemistry, ISSN 0009-9147, 10/2004, Volume 50, Issue 10, pp. 1785 - 1796
Background: Newborn screening for deficiency in the lysosomal enzymes that cause Fabry, Gaucher, Krabbe, Niemann-Pick A/B, and Pompe diseases is warranted... 
HUMAN NEUTROPHILS | STORAGE DISEASE | REPLACEMENT THERAPY | FILTER-PAPER | FABRY-DISEASE | MEDICAL LABORATORY TECHNOLOGY | TANDEM MASS-SPECTROMETRY | DEFICIENCY | POMPES-DISEASE | ENZYMATIC DIAGNOSIS | INBORN-ERRORS | Glucosylceramidase - blood | Humans | Neonatal Screening - methods | Glucan 1,4-alpha-Glucosidase - blood | alpha-Galactosidase - blood | Lysosomal Storage Diseases - diagnosis | beta-Galactosidase - blood | Clinical Enzyme Tests - methods | Blood Specimen Collection | Mass Spectrometry | Buffers | Infant, Newborn | Sphingomyelin Phosphodiesterase - blood | Infants (Newborn) | Enzymes | Acarbose | Biological products
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6. Full Text Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay
by Wolf, Pavlina and Alcalay, Roy N and Liong, Christopher and Cullen, Emmaline and Pauciulo, Michael W and Nichols, William C and Gan-Or, Ziv and Chung, Wendy K and Faulkner, Tina and Bentis, Christopher and Pomponio, Robert J and Ma, Xiwen and Kate Zhang, X and Keutzer, Joan M and Oliva, Petra
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. 135 - 139
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this... 
Dried blood spots (DBS) | Glucocerebroside | Newborn screening (NBS) | β-Glucocerebrosidase (GBA) | Gaucher disease (GD) | Lysosomal storage disorder (LSD) | MEDICINE, RESEARCH & EXPERIMENTAL | STABILITY | GBA | FLUOROMETRY | ELIGLUSTAT | THERAPY | GENE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | LYSOSOMAL-ENZYMES | MUTATIONS | beta-Glucocerebrosidase (GBA) | IMIGLUCERASE | TYPE-1 GAUCHER-DISEASE | Gaucher Disease - metabolism | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Fluorescence | Biomarkers - blood | Case-Control Studies | Mass Screening | Blood Specimen Collection | Biological Assay | Gaucher Disease - diagnosis | Tandem Mass Spectrometry - methods | Cohort Studies | Gaucher Disease (GD) | Lysosomal Storage Disorder (LSD) | Newborn Screening (NBS)
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7. Full Text Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations
by Pchelina, Sofya and Baydakova, Galina and Nikolaev, Mikhael and Senkevich, Konstantin and Emelyanov, Anton and Kopytova, Alena and Miliukhina, Irina and Yakimovskii, Andrey and Timofeeva, Alla and Berkovich, Olga and Fedotova, Ekatrina and Illarioshkin, Sergey and Zakharova, Ekaterina
Movement Disorders, ISSN 0885-3185, 08/2018, Volume 33, Issue 8, pp. 1325 - 1330
Introduction: Glucocerebrosidase 1 mutations, the most common genetic contributor to Parkinson's disease (PD), have been associated with decreased... 
Parkinson's disease | mutations | hexosylsphingosine | GBA | LC‐MS/MS | lysosomes | lysosphingolipids | LC-MS/MS | GBA mutations | GLUCOSYLCERAMIDE | OLIGOMERIC ALPHA-SYNUCLEIN | CLINICAL NEUROLOGY | GAUCHER-DISEASE | GLUCOSYLSPHINGOSINE | GENE | MODELS | Tandem Mass Spectrometry | Glucosylceramidase - genetics | Sphingolipids - blood | Humans | Middle Aged | Chromatography, Liquid | Female | Male | Aged | Parkinson Disease - blood | Parkinson Disease - genetics | Mutation - genetics | Enzymes | Hydrolases | Genetic aspects | Liquid chromatography | Mass spectrometry
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8. Full Text Lysosomal alterations in peripheral blood mononuclear cells of Parkinson's disease patients
by Papagiannakis, Nikolaos and Xilouri, Maria and Koros, Christos and Stamelou, Maria and Antonelou, Roubina and Maniati, Matina and Papadimitriou, Dimitra and Moraitou, Marina and Michelakakis, Helen and Stefanis, Leonidas
Movement Disorders, ISSN 0885-3185, 11/2015, Volume 30, Issue 13, pp. 1830 - 1834
Background: Reduced expression of lysosomal-associated membrane protein 2a and heatshock-cognate 70 proteins, involved in chaperone-mediated autophagy and of... 
glucocerebrosidase (GCase) | alpha‐synuclein | Parkinson's disease | chaperone‐mediated autophagy (CMA) | Hsc70 | lysosome | chaperone-mediated autophagy (CMA) | alpha-synuclein | CHAPERONE-MEDIATED AUTOPHAGY | SUBSTANTIA-NIGRA | CLINICAL NEUROLOGY | IMPAIRMENT | GLUCOCEREBROSIDASE | GENE | DEGRADATION | PROTEINS | EXPRESSION | LEWY BODIES | Leukocytes, Mononuclear - metabolism | Glucosylceramidase - genetics | Parkinson Disease - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | Gene Expression Regulation - genetics | HSC70 Heat-Shock Proteins - metabolism | Humans | Lysosomes - genetics | Male | Glucosylceramidase - metabolism | Parkinson Disease - genetics | Mutation - genetics | RNA, Messenger - metabolism | Case-Control Studies | Lysosomes - metabolism | Lysosome-Associated Membrane Glycoproteins - genetics | Female | alpha-Synuclein - genetics | alpha-Synuclein - metabolism | Heat shock proteins | Enzymes | Hydrolases | RNA
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9. Full Text The neurobiology of glucocerebrosidase-associated parkinsonism: A positron emission tomography study of dopamine synthesis and regional cerebral blood flow
by Goker-Alpan, Ozlem and Masdeu, Joseph C and Kohn, Philip D and Ianni, Angela and Lopez, Grisel and Groden, Catherine and Chapman, Molly C and Cropp, Brett and Eisenberg, Daniel P and Maniwang, Emerson D and Davis, Joie and Wiggs, Edythe and Sidransky, Ellen and Berman, Karen F
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 8, pp. 2440 - 2448
Mutations in GBA, the gene encoding glucocerebrosidase, the enzyme deficient in Gaucher disease, are common risk factors for Parkinson disease, as patients... 
brain imaging | Parkinson disease | positron emission tomography (PET) | lysosomal storage disorders | genetic risk | DEMENTIA | RISK | CARRIERS | NEUROSCIENCES | CLINICAL NEUROLOGY | GAUCHER-DISEASE | GENE | F-18-DOPA PET | LEWY | MUTATIONS | DYSFUNCTION | PROGRESSION | Glucosylceramidase - genetics | Cerebrovascular Circulation - physiology | Humans | Middle Aged | Dopamine - biosynthesis | Male | Parkinsonian Disorders - enzymology | Glucosylceramidase - metabolism | Positron-Emission Tomography - methods | Young Adult | Mutation - physiology | Adolescent | Parkinsonian Disorders - diagnostic imaging | Adult | Female | Parkinsonian Disorders - genetics | Aged | Original
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10. Full Text LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
by Pettazzoni, Magali and Froissart, Roseline and Pagan, Cécile and Vanier, Marie T and Ruet, Séverine and Latour, Philippe and Guffon, Nathalie and Fouilhoux, Alain and Germain, Dominique P and Levade, Thierry and Vianey-Saban, Christine and Piraud, Monique and Cheillan, David
PLoS ONE, ISSN 1932-6203, 07/2017, Volume 12, Issue 7, p. e0181700
Background The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies.... 
DIAGNOSIS | GENE | MULTIDISCIPLINARY SCIENCES | LYSOSOMAL STORAGE DISEASES | PSYCHOSINE | FABRY DISEASE | ENZYME REPLACEMENT THERAPY | CHITOTRIOSIDASE | DRIED BLOOD SPOTS | GLOBOID-CELL LEUKODYSTROPHY | GAUCHER-DISEASE | Tandem Mass Spectrometry - standards | Humans | Prenatal Diagnosis | Male | Biomarkers - blood | Chromatography, High Pressure Liquid | Fabry Disease - blood | Sphingolipids - blood | Sensitivity and Specificity | Adult | Female | Niemann-Pick Disease, Type C - diagnosis | Niemann-Pick Disease, Type C - blood | Infant, Newborn | Sphingolipidoses | Amniotic fluid | Physiological aspects | Sphingolipids | Research | Diagnosis | Properties | Risk factors | Niemann-Pick disease | Multiplexing | Plasma | Edema | Gangliosidosis | Inborn errors of metabolism | Disease | Fetuses | Metabolism | Medical screening | Disease control | Patients | Fabry's disease | Diseases | Screening | Enzymatic activity | Hydrops fetalis | Biomarkers | Glucosylceramidase | Bioindicators | Diagnostic systems | Mutation | Gaucher's disease | Life Sciences
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11. Full Text Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: Application to a small-scale population study for five lysosomal storage disorders
by Orsini, Joseph J and Martin, Monica M and Showers, Amanda L and Bodamer, Olaf A and Zhang, X. Kate and Gelb, Michael H and Caggana, Michele
Clinica Chimica Acta, ISSN 0009-8981, 08/2012, Volume 413, Issue 15-16, pp. 1270 - 1273
We sought to modify a previously published tandem mass spectrometry method of screening for 5 lysosomal storage disorders (LSDs) in order to make it better... 
Newborn screening | Tandem mass spectrometry | Multiplex | Lysosomal storage disorder | FABRY | DISEASE | MEDICAL LABORATORY TECHNOLOGY | DRIED BLOOD SPOTS | POMPE | alpha-Glucosidases - blood | Leukodystrophy, Globoid Cell - diagnosis | Dried Blood Spot Testing | Glucosylceramidase - blood | Humans | Neonatal Screening - methods | Lysosomal Storage Diseases - diagnosis | Lysosomal Storage Diseases - blood | Niemann-Pick Diseases - diagnosis | Galactosylceramidase - blood | Glycogen Storage Disease Type II - diagnosis | Fabry Disease - diagnosis | Gaucher Disease - diagnosis | Tandem Mass Spectrometry - methods | Infant, Newborn | Quality Control | Sphingomyelin Phosphodiesterase - blood | Infants (Newborn) | Medicine, Experimental | Medical research | Medical screening | Mass spectrometry | Spectrum analysis
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12. Full Text Changes of the peripheral blood mononuclear cells membrane fluidity from type 1 Gaucher disease patients: an electron paramagnetic resonance study
by Pavićević, Aleksandra and Lakočević, Milan and Popović, Milan and Popović-Bijelić, Ana and Daković, Marko and Mojović, Miloš
Biological Chemistry, ISSN 1431-6730, 04/2018, Volume 399, Issue 5, pp. 447 - 452
Gaucher disease (GD) is a lysosomal storage disorder, caused by an impaired function of β-glucocerebrosidase, which results in accumulation of glucocerebroside... 
peripheral blood mononuclear cells | spin labeling | Gaucher disease | electron paramagnetic resonance | membrane fluidity | Peripheral blood mononuclear cells | Spin labeling | Membrane fluidity | Electron paramagnetic resonance | BIOPHYSICAL PROPERTIES | GLUCOSYLCERAMIDE | ACID | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | CERAMIDE | GLUCOCEREBROSIDASE | RAFTS | GENE | DOMAINS | Leukocytes, Mononuclear - pathology | Electron Spin Resonance Spectroscopy | Humans | Cell Membrane - pathology | Adult | Gaucher Disease - blood | Glucosylceramidase - administration & dosage | Gaucher Disease - therapy | Infusions, Intravenous | Membrane Fluidity | Gaucher Disease - diagnosis | Physiological aspects | Cell membranes | Health aspects | Blood cells | Gaucher's disease
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13. Full Text Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
by Dekker, Nick and van Dussen, Laura and Hollak, Carla E. M and Overkleeft, Herman and Scheij, Saskia and Ghauharali, Karen and van Breemen, Mariëlle J and Ferraz, Maria J and Groener, Johanna E. M and Maas, Mario and Wijburg, Frits A and Speijer, Dave and Tylki-Szymanska, Anna and Mistry, Pramod K and Boot, Rolf G and Aerts, Johannes M
Blood, ISSN 0006-4971, 2011, Volume 118, Issue 16, pp. e118 - e127
Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue... 
BRAIN MICROSOMES | GLUCOCEREBROSIDASE | MACROPHAGE | REPLACEMENT THERAPY | SAPOSIN-C DEFICIENCY | INHERITED ENZYME DEFICIENCY | GLUCOSYL HYDROLASE | SUBSTRATE REDUCTION THERAPY | HEMATOLOGY | CHITOTRIOSIDASE | INTERVENTION | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Enzyme Therapy | Glucosylceramidase - genetics | Chemokines, CC - blood | Humans | Genotype | Male | Gaucher Disease - blood | Recombinant Proteins - genetics | Macrophages - cytology | Psychosine - analogs & derivatives | Phenotype | Gaucher Disease - genetics | Spectrometry, Mass, Electrospray Ionization | Glucosylceramidase - therapeutic use | Female | Psychosine - blood | Hexosaminidases - blood | Gaucher Disease - drug therapy | Gaucher Disease - enzymology | Phagocytes, Granulocytes, and Myelopoiesis
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