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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
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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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 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
glucocerebrosidase (GCase) | alpha‐synuclein | Parkinson's disease | chaperone‐mediated autophagy (CMA) | Hsc70 | lysosome | chaperone-mediated autophagy (CMA) | alpha-synuclein | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus
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4. 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
Dried blood spots (DBS) | Glucocerebroside | Newborn screening (NBS) | β-Glucocerebrosidase (GBA) | Gaucher disease (GD) | Lysosomal storage disorder (LSD) | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | 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 | Index Medicus | Gaucher Disease (GD) | Lysosomal Storage Disorder (LSD) | Newborn Screening (NBS)
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5. Full Text Plasma Cytokines Profile in Patients with Parkinson's Disease Associated with Mutations in GBA Gene
by Miliukhina, I. V and Usenko, T. S and Senkevich, K. A and Nikolaev, M. A and Timofeeva, A. A and Agapova, E. A and Semenov, A. V and Lubimova, N. E and Totolyan, A. A and Pchelina, S. N
Bulletin of experimental biology and medicine, ISSN 0007-4888, 02/2020, Volume 168, Issue 4, pp. 423 - 426
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Glucosylceramidase - genetics | Chemokine CCL2 - immunology | Glucosylceramidase - blood | Humans | Middle Aged | Tumor Necrosis Factor-alpha - blood | Tumor Necrosis Factor-alpha - genetics | Interleukin-13 - immunology | Male | Interleukin-1beta - genetics | Case-Control Studies | Interleukin-1beta - blood | Interleukin-13 - genetics | Interleukin-2 - immunology | Tumor Necrosis Factor-alpha - immunology | Female | Interferon-gamma - genetics | Interleukin-13 - blood | Gene Expression | Parkinson Disease - pathology | Enzyme-Linked Immunosorbent Assay | Parkinson Disease - immunology | Glucosylceramidase - immunology | Interleukin-1beta - immunology | Chemokine CCL2 - genetics | Inflammation | Parkinson Disease - genetics | Chemokine CCL2 - blood | Interleukin-2 - genetics | Interferon-gamma - immunology | Aged | Mutation | Parkinson Disease - blood | Interferon-gamma - blood | Interleukin-2 - blood | Care and treatment | Parkinson's disease | Tumor necrosis factor | Analysis | Genes | Genetic aspects | Enzyme-linked immunosorbent assay | Index Medicus
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6. 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 (London, England : 1878), ISSN 0006-8950, 2012, Volume 135, Issue 8, pp. 2440 - 2448
brain imaging | Parkinson disease | positron emission tomography (PET) | lysosomal storage disorders | genetic risk | Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Radionuclide investigations | Nervous system | Investigative techniques, diagnostic techniques (general aspects) | Medical sciences | 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 | Index Medicus | Abridged Index Medicus | Original
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7. 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
Life Sciences & Biomedicine | Hematology | Science & Technology | 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 | Index Medicus | Abridged Index Medicus | Phagocytes, Granulocytes, and Myelopoiesis
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8. Full Text Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots
by Cozma, Claudia and Cullufi, Paskal and Kramp, Guido and Hovakimyan, Marina and Velmishi, Virtut and Gjikopulli, Agim and Tomori, Sonila and Fischer, Steffen and Oppermann, Sebastian and Grittner, Ulrike and Bauer, Peter and Beetz, Christian and Rolfs, Arndt
International journal of molecular sciences, ISSN 1422-0067, 07/2020, Volume 21, Issue 13, p. 4577
Biochemistry & Molecular Biology | Physical Sciences | Chemistry | Life Sciences & Biomedicine | Chemistry, Multidisciplinary | Science & Technology | Prognosis | Follow-Up Studies | Humans | Middle Aged | Male | Gaucher Disease - blood | Biomarkers - blood | Gaucher Disease - pathology | Gaucher Disease - therapy | Psychosine - analogs & derivatives | Young Adult | Enzyme Replacement Therapy - methods | Dried Blood Spot Testing - methods | Adolescent | Adult | Female | Aged | Glucosylceramidase - administration & dosage | Psychosine - blood | Child | Cohort Studies | Enzymes | Laboratories | Health services | Mass spectroscopy | Patients | Blood | Blood levels | Studies | Telemedicine | Biomarkers | Diagnostic systems | Mass spectrometry | Monitoring | Gaucher's disease | Index Medicus | Lyso-Gb1 | enzyme replacement therapy | Gaucher disease | biomarker | monitoring
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9. Full Text Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard
by Mirzaian, Mina and Wisse, Patrick and Ferraz, Maria J and Gold, Henrik and Donker-Koopman, Wilma E and Verhoek, Marri and Overkleeft, Herman S and Boot, Rolf G and Kramer, Gertjan and Dekker, Nick and Aerts, Johannes M.F.G
Blood cells, molecules, & diseases, ISSN 1079-9796, 04/2015, Volume 54, Issue 4, pp. 307 - 314
LC-MS/MS | Glucocerebrosidase | Gaucher disease | Quantification | Mass spectrometry | Glucosylsphingosine | Life Sciences & Biomedicine | Hematology | Science & Technology | Enzyme Replacement Therapy | Reproducibility of Results | Biomarkers - urine | Chemokines, CC - blood | Humans | Carbon Isotopes | Gaucher Disease - blood | Biomarkers - blood | Case-Control Studies | Psychosine - analogs & derivatives | Gaucher Disease - urine | Tandem Mass Spectrometry | Psychosine - urine | Reference Standards | Glucosylceramidase - deficiency | Spectrometry, Mass, Electrospray Ionization | Glucosylceramidase - therapeutic use | Psychosine - blood | Gaucher Disease - diagnosis | Hexosaminidases - blood | Gaucher Disease - drug therapy | Observer Variation | Enzymes | Standards | Sphingosine | Index Medicus
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10. 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
peripheral blood mononuclear cells | spin labeling | Gaucher disease | electron paramagnetic resonance | membrane fluidity | Peripheral blood mononuclear cells | Spin labeling | Membrane fluidity | Electron paramagnetic resonance | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | 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 | Index Medicus
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11. Full Text Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease
by Franco, Melanie and Reihani, Nelly and Marin, Mickael and De Person, Marine and Billette de Villemeur, Thierry and Rose, Christian and Colin, Yves and Moussa, Fathi and Belmatoug, Nadia and Le Van Kim, Caroline
American journal of hematology, ISSN 0361-8609, 09/2017, Volume 92, Issue 9, pp. E561 - E563
Life Sciences & Biomedicine | Hematology | Science & Technology | Recombinant Proteins - therapeutic use | Enzyme Replacement Therapy | Chemokines, CC - blood | Humans | Middle Aged | Child, Preschool | Male | Gaucher Disease - blood | Erythrocyte Membrane - drug effects | Psychosine - analogs & derivatives | Young Adult | Glucosylceramidase - therapeutic use | Adolescent | Membrane Lipids - analysis | Adult | Female | Gaucher Disease - physiopathology | Erythrocyte Membrane - chemistry | Psychosine - blood | Child | Erythrocyte Deformability - drug effects | Hexosaminidases - blood | Gaucher Disease - drug therapy | Enzymes | Biopharmaceutics | Gaucher's disease | Index Medicus
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