المؤلفون: AndréR.A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, CindyP.A.A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts

المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 451-463 (2016)

مصطلحات موضوعية: glucosyl-β-D-cholesterol, glucosylceramide, glucocerebrosidase, Gaucher disease, Niemann-Pick type C disease, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227520354444Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/57f08df9b338494281ce0b82ea7d752aTest

المؤلفون: Jan Aten, Maria J. Ferraz, Lindsey T. Lelieveld, Rianne Meijer, Saskia V. Oussoren, Johannes M. F. G. Aerts, Rolf G. Boot, André R. A. Marques, Daphne E.C. Boer, Mina Mirzaian, Chi-Lin Kuo, Daniela H.M. Chao, Kassiani Kytidou, Marc D. Hazeu, Marco van Eijk, Herman S. Overkleeft, Paulo Gaspar, Tanit L. Gabriel, Patrick Wisse, Martijn J.C. van der Lienden

المصدر: eLS

مصطلحات موضوعية: Glucocerebrosidase, 0301 basic medicine, Lysosomal storage disorders, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Lysosomal Storage Disorders, Lysosome, Medicine, Glycosphingolipid, Gaucher Disease, business.industry, LysoGb3, medicine.disease, Fabry disease, Doenças Genéticas, Cell biology, 030104 developmental biology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Glucosylsphingosine, lipids (amino acids, peptides, and proteins), business, Fabry Dsease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::505f8818a5e7e61f5685303ce1583c35Test
https://doi.org/10.1002/9780470015902.a0027592Test

المؤلفون: Jeroen D. C. Codée, Johannes M. F. G. Aerts, Cindy P. A. A. van Roomen, Mina Mirzaian, Tanit L. Gabriel, Maria J. Ferraz, Marco van Eijk, Gijsbert A. van der Marel, Patrick Wisse, André Marques, Roelof Ottenhoff, Herman S. Overkleeft

المساهمون: Other departments, Medical Biochemistry

المصدر: Clinica Chimica Acta
Clinica Chimica Acta, 459, 36-44
Clinica chimica acta; international journal of clinical chemistry, 459, 36-44. Elsevier

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Clinical Biochemistry, Mice, Transgenic, 030204 cardiovascular system & hematology, Mass spectrometry, Tandem mass spectrometry, Biochemistry, Cell Line, Mice, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Sphingosine, Tandem Mass Spectrometry, Internal medicine, medicine, Animals, Humans, Sphingosine-1-phosphate, Chromatography, High Pressure Liquid, Detection limit, Carbon Isotopes, Kidney, Chromatography, organic chemicals, Biochemistry (medical), General Medicine, Fibroblasts, Reference Standards, medicine.disease, Sphingolipid, Fabry disease, 030104 developmental biology, medicine.anatomical_structure, Endocrinology, chemistry, Fabry Disease, Female, lipids (amino acids, peptides, and proteins), Lysophospholipids

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0feb41599a87b0a99685c6ff3d470b3Test
https://doi.org/10.1016/j.cca.2016.05.017Test

المؤلفون: Gen Cross, Adrianus M. C. H. van den Nieuwendijk, Johannes M. F. G. Aerts, Patrick Wisse, Eva J. van Rooden, Herman S. Overkleeft, Jeroen D. C. Codée, Mark A. R. de Geus, Richard J. B. H. N. van den Berg, Gijsbert A. van der Marel

المساهمون: Amsterdam Cardiovascular Sciences, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry

المصدر: Journal of organic chemistry, 80(14), 7258-7265. American Chemical Society

مصطلحات موضوعية: chemistry.chemical_classification, Ceramide, Molecular Structure, Sphingosine, Propanols, Chemistry, Stereochemistry, Alkene, organic chemicals, Organic Chemistry, food and beverages, Fatty acid, Stereoisomerism, Alkenes, 6-hydroxysphingosine, Ceramides, Metathesis, Catalysis, chemistry.chemical_compound, Moiety

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b340dd891ac0920cb880e2746d745c3Test
https://doi.org/10.1021/acs.joc.5b00823Test

المؤلفون: Maria J. Ferraz, Gijsbert A. van der Marel, Johan Lugtenburg, Hans van den Elst, Jeroen D. C. Codée, Henrik Gold, Johannes M. F. G. Aerts, Richard J. B. H. N. van den Berg, Mina Mirzaian, Herman S. Overkleeft, Patrick Wisse, Ginger Lutteke

المصدر: European Journal of Organic Chemistry. 2015:2661-2677

مصطلحات موضوعية: Sphingosine, Organic Chemistry, Carbon-13, Sphingolipid, carbohydrates (lipids), Isotopic labeling, chemistry.chemical_compound, Glycolipid, chemistry, Biochemistry, Lipidomics, Moiety, lipids (amino acids, peptides, and proteins), Amine gas treating, Physical and Theoretical Chemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3bb5155849ffdcbfe200aa6d941a7f22Test
https://doi.org/10.1002/ejoc.201500025Test

المؤلفون: Maria J. Ferraz, Jeroen D. C. Codée, Kassiani Kytidou, André R. A. Marques, P. Gaspar, Patrick Wisse, Mina Mirzaian, G. A. Van Der Marel, Johannes M. F. G. Aerts, Saskia V. Oussoren, Herman S. Overkleeft

المساهمون: ACS - Amsterdam Cardiovascular Sciences, Medical Biochemistry, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Clinica chimica acta; international journal of clinical chemistry, 466, 178-184. Elsevier
Clinica Chimica Acta, 466, 178-184

مصطلحات موضوعية: 0301 basic medicine, Male, Clinical Biochemistry, Biochemistry, Mass Spectrometry, Sphingolipidoses, 03 medical and health sciences, chemistry.chemical_compound, Lactosylsphingosine, 0302 clinical medicine, Tandem Mass Spectrometry, Quantification, medicine, Humans, Multiplex, Chromatography, High Pressure Liquid, Carbon Isotopes, Sphingolipids, Chromatography, Gaucher Disease, Plasma samples, Sphingosine, Biochemistry (medical), Uplc esi ms ms, General Medicine, Sphingoid Bases, Reference Standards, medicine.disease, Sphingolipid, C-13-Encoded Internal Standards, Doenças Genéticas, 030104 developmental biology, chemistry, Lysosphingolipids, Fabry Disease, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::770fcaaf3e459a9a3eed8ccfc1875d8fTest
https://hdl.handle.net/10400.18/5462Test

المؤلفون: Johannes M. F. G. Aerts, Wouter W. Kallemeijn, Herman S. Overkleeft, Rolf G. Boot, Mina Mirzaian, Daniela Herrera Moro, André R. A. Marques, Maria J. Ferraz, Lianne I. Willems, Patrick Wisse

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS. 1841(5):811-825

مصطلحات موضوعية: Gaucher Disease, Globotriaosylceramide, Cell Biology, Glycosphingolipid, Disease, Biology, medicine.disease, Fabry disease, Sphingolipid, Glycosphingolipids, Pathophysiology, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Lysosome, Immunology, medicine, Fabry Disease, Humans, Molecular Biology, Glucocerebrosidase, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdefe5dcf7c2f185ed842b9825e3b311Test
https://doi.org/10.1016/j.bbalip.2013.11.004Test

المؤلفون: Saskia Scheij, Cécile M. J. Ouairy, Anneke Strijland, Marri Verhoek, Monique D. Appelman, Rolf G. Boot, André Marques, D. Lahav, Mina Mirzaian, Maria J. Ferraz, Herman S. Overkleeft, Patrick Wisse, Johannes M. F. G. Aerts

المساهمون: Graduate School, Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences

المصدر: FEBS letters, 590(6), 716-725. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, Male, Acid Ceramidase, Acylation, Biophysics, Biochemistry, Glycosphingolipids, 03 medical and health sciences, chemistry.chemical_compound, Mice, Structural Biology, Genetics, medicine, Animals, Humans, Glycoside hydrolase, Molecular Biology, Mice, Knockout, Alpha-galactosidase, Gaucher Disease, biology, Cell Biology, Glycosphingolipid, Metabolism, medicine.disease, Fabry disease, Glucosylceramidase, Disease Models, Animal, 030104 developmental biology, HEK293 Cells, chemistry, alpha-Galactosidase, biology.protein, Fabry Disease, Female, Lysosomes, Glucocerebrosidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd5a38298fa91df3dfa4e3077a1dc56Test
https://doi.org/10.1002/1873-3468.12104Test

المؤلفون: Marco van Eijk, Rolf G. Boot, Yoshio Hirabayashi, E. F. C. Blommaart, Pilar Giraldo, Paulo Gaspar, Nick Dekker, Rianne Meijer, Roelof Ottenhoff, Mina Mirzaian, Elena Pavlova, Navraj S. Pannu, Maria Dahl, Pilar Irún, Johannes M. F. G. Aerts, Saskia Scheij, Karen Ghauharali-van der Vlugt, Stefan Karlsson, Timothy M. Cox, Maria J. Ferraz, Pilar Alfonso, Patrick Wisse, Herman S. Overkleeft, Marri Verhoek, André Marques, Hisako Akiyama, Cindy P. A. A. van Roomen

المساهمون: Pavlova, Elena [0000-0003-0187-5098], Cox, Timothy [0000-0002-4951-9941], Apollo - University of Cambridge Repository, Other departments, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Graduate School, AII - Amsterdam institute for Infection and Immunity, ACS - Amsterdam Cardiovascular Sciences

المصدر: Journal of Lipid Research, Vol 57, Iss 3, Pp 451-463 (2016)
Journal of Lipid Research
Journal of lipid research, 57(3), 451-463. American Society for Biochemistry and Molecular Biology Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, Glycosylation, Niemann-Pick type C disease, QD415-436, Biology, Biochemistry, Cercopithecus aethiops, 03 medical and health sciences, chemistry.chemical_compound, Mice, Endocrinology, Lysosome, glucosylceramide, Chlorocebus aethiops, medicine, Animals, Humans, Research Articles, Niemann-Pick Diseases, COS cells, Gaucher Disease, Cholesterol, glucocerebrosidase, beta-Glucosidase, glucosyl-β-D-cholesterol, Cell Biology, In vitro, Sterol, Cell biology, 030104 developmental biology, medicine.anatomical_structure, RAW 264.7 Cells, chemistry, COS Cells, biology.protein, Female, Glucocerebrosidase, Glucosidases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce37df56ec0df699dc973d8fe40b72fTest
https://doi.org/10.1194/jlr.m064923Test

المؤلفون: Pilar Giraldo, Cindy P. A. A. van Roomen, Mina Mirzaian, Clara Sá Miranda, Maria J. Ferraz, Patrick Wisse, Johannes M. F. G. Aerts, Pilar Irún, André Marques, Roelof Ottenhoff, Herman S. Overkleeft, Pilar Alfonso, Paulo Gaspar

المساهمون: Graduate School, Other departments, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Amsterdam Cardiovascular Sciences

المصدر: Molecular genetics and metabolism, 117(2), 186-193. Academic Press Inc.
Molecular genetics and metabolism, 117(2), 186–193
Molecular genetics and metabolism

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mice, Transgenic, Kidney, Biochemistry, Glycosphingolipids, 03 medical and health sciences, chemistry.chemical_compound, Endocrinology, Internal medicine, Genetics, medicine, Animals, Molecular Biology, Mice, Inbred BALB C, Niemann–Pick disease, type C, Chemistry, Galactocerebrosidase, Myocardium, nutritional and metabolic diseases, Niemann-Pick Disease, Type C, Lipid metabolism, Glycosphingolipid, Lipid Metabolism, medicine.disease, Fabry disease, Mice, Inbred C57BL, carbohydrates (lipids), Sterols, 030104 developmental biology, medicine.anatomical_structure, Liver, Case-Control Studies, Immunology, Krabbe disease, Female, lipids (amino acids, peptides, and proteins), Glucocerebrosidase, Spleen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5c99d5ca160e67c467a37c319e3af33Test
https://hdl.handle.net/1887/44113Test