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المؤلفون: Cindy P. A. A. van Roomen, Ewout Foppen, Mina Mirzaian, Sander Kooijman, Saskia Scheij, Herman S. Overkleeft, Chun-Xia Yi, Roelof Ottenhoff, Marco van Eijk, Clarita Mergen, Patrick C.N. Rensen, Yanan Wang, Kirstin Jansen, Daniela Herrera Moro Chao, Matthias H. Tschöp, Johannes M. F. G. Aerts, Edwin T. Parlevliet, Marri Verhoek, Dawei Wang, André Marques, Rolf G. Boot, Andries Kalsbeek, Randy J. Seeley
المساهمون: University of Zurich, Aerts, Johannes M F G, Netherlands Institute for Neuroscience (NIN), Laboratory for Endocrinology, Medical Biochemistry, ACS - Atherosclerosis & ischemic syndromes, ACS - Diabetes & metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Cardiovascular Sciences, APH - Aging & Later Life
المصدر: Diabetes, 68(12), 2223-2234. AMER DIABETES ASSOC
Diabetes 68, 2223-2234 (2019)
Diabetes, 68(12), 2223-2234
Diabetes, 68, 2223-2234. American Diabetes Association Inc.
Diabetes, 68(12), 2223-2234. American Diabetes Association Inc.مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, 1-Deoxynojirimycin, Endocrinology, Diabetes and Metabolism, Iminosugar, Adipose tissue, Adamantane, 610 Medicine & health, 030209 endocrinology & metabolism, Satiation, Carbohydrate metabolism, Mice, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, Adipose Tissue, Brown, Glucagon-Like Peptide 1, 10183 Swiss Institute of Allergy and Asthma Research, Internal medicine, Brown adipose tissue, Internal Medicine, medicine, Animals, Glucose homeostasis, Secretion, Obesity, Rats, Wistar, Receptor, business.industry, Antagonist, Brain, Rats, Mice, Inbred C57BL, Diabetes and Metabolism, 2712 Endocrinology, Diabetes and Metabolism, Glucose, 030104 developmental biology, medicine.anatomical_structure, 2724 Internal Medicine, business, Signal Transduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6eeea7db358776e32d871b6706e3ba6Test
https://hdl.handle.net/1887/3199006Test -
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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 -
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المؤلفون: Carla E. M. Hollak, Mina Mirzaian, Patrick Wisse, Maria J. Ferraz, Herman S. Overkleeft, Johannes M. F. G. Aerts, Bouwien E. Smid, Marri Verhoek
المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Graduate School, Other departments, Medical Biochemistry, Amsterdam Cardiovascular Sciences
المصدر: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 11(1). BioMed Central
Orphanet Journal of Rare Diseases, 11, 28مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 1-Deoxynojirimycin, Pyrrolidines, Disease, Glucosylceramides, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Miglustat, medicine, Humans, Genetics(clinical), Pharmacology (medical), Substrate reduction therapy, Enzyme Inhibitors, Genetics (clinical), Eliglustat, Chitotriosidase, Medicine(all), Gaucher Disease, business.industry, Research, CCL18, nutritional and metabolic diseases, General Medicine, Enzyme replacement therapy, Blood proteins, Glucosylceramidase, 030104 developmental biology, Endocrinology, 030220 oncology & carcinogenesis, Glucosylsphingosine, Glucosylceramide, Female, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4346b8d3c90c6f1429341c58c8d6fce1Test
https://doi.org/10.1186/s13023-016-0413-3Test -
4Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
المؤلفون: J. Aten, Marri Verhoek, Johannes M. F. G. Aerts, J. E. Groener, Rolf G. Boot, Frits A. Wijburg, S. Scheij, C. E. Hollak, J. Brinkman
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases, Endocrinology, Medical Biochemistry, Other departments, AII - Amsterdam institute for Infection and Immunity, Pathology, ACS - Amsterdam Cardiovascular Sciences
المصدر: ResearcherID
Journal of inherited metabolic disease, 28(1), 13-20. Springer Netherlandsمصطلحات موضوعية: medicine.medical_specialty, Hepatosplenomegaly, Bone Marrow Cells, Biology, Asymptomatic, Central nervous system disease, Internal medicine, Blood plasma, Genetics, medicine, Humans, Pathological, Genetics (clinical), Family Health, Niemann-Pick Diseases, Gaucher Disease, Homozygote, CCL18, Infant, Lipid Metabolism, medicine.disease, Immunohistochemistry, Hexosaminidases, Sphingomyelin Phosphodiesterase, Endocrinology, Chemokines, CC, Mutation, Female, medicine.symptom, Acid sphingomyelinase, Niemann–Pick disease, Foam Cells, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b6ce190d0ad6d20c74d89bf5b6a33cTest
https://doi.org/10.1007/s10545-005-4416-9Test -
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المؤلفون: Rolf G. Boot, Nick Dekker, Mina Mirzaian, Patrick Wisse, Johannes M. F. G. Aerts, Wilma E. Donker-Koopman, Maria J. Ferraz, Gert Jan Kramer, Marri Verhoek, Herman S. Overkleeft, Henrik Gold
المصدر: Blood cells, moleculesdiseases. 54(4)
مصطلحات موضوعية: medicine.medical_specialty, Spectrometry, Mass, Electrospray Ionization, Urinary system, Urine, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Enzyme Replacement Therapy, Molecular Biology, Observer Variation, Carbon Isotopes, Gaucher Disease, Isotope, Chemistry, CCL18, Psychosine, Reproducibility of Results, Cell Biology, Hematology, Enzyme replacement therapy, Reference Standards, medicine.disease, Fabry disease, Mass spectrometric, Endocrinology, Hexosaminidases, Biochemistry, Case-Control Studies, Chemokines, CC, Molecular Medicine, Glucosylceramidase, Glucocerebrosidase, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c952d734d80bebac424e7ca098c7ef8Test
https://pubmed.ncbi.nlm.nih.gov/25842368Test -
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المؤلفون: E. Dimitriou, Johannes M. F. G. Aerts, Rolf G. Boot, Marri Verhoek, Helen Michelakakis, S. van Weely, Irene Mavridou
المساهمون: Other departments
المصدر: ResearcherID
Journal of inherited metabolic disease, 18(5), 609-615. Springer Netherlandsمصطلحات موضوعية: medicine.medical_specialty, Genotype, DNA Mutational Analysis, Disease, Biology, medicine.disease_cause, Internal medicine, Genetics, medicine, Lysosomal storage disease, Humans, Allele, Genetics (clinical), Cells, Cultured, Mutation, Gaucher Disease, Greece, DNA, Fibroblasts, medicine.disease, Phenotype, Glucosylceramidase, Endocrinology, Glucocerebrosidase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab8660f3e53162ccc0bb3a6efeb1e777Test
https://doi.org/10.1007/bf02436006Test -
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المؤلفون: Johannes M. F. G. Aerts, Wilma E. Donker-Koopman, Jan J. Weening, G. Herma Renkema, Carla E. M. Hollak, Rolf G. Boot, Johanna E. M. Groener, Marri Verhoek, Mirjam Langeveld
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Endocrinology, Pathology, ACS - Amsterdam Cardiovascular Sciences
المصدر: Journal of inherited metabolic disease, 29(4), 564-571. Springer Netherlands
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Time Factors, Genotype, Urinary system, Urine, Biology, Kidney, Gastroenterology, chemistry.chemical_compound, Internal medicine, Miglustat, Genetics, medicine, Humans, Genetics (clinical), Creatinine, Gaucher Disease, CCL18, Kidney metabolism, nutritional and metabolic diseases, Enzyme replacement therapy, Middle Aged, Endocrinology, medicine.anatomical_structure, Hexosaminidases, chemistry, Case-Control Studies, Chemokines, CC, Female, Biomarkers, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84b23d11cc0385126ae3d2323d2cc208Test
https://pure.amc.nl/en/publications/ccl18-a-urinary-marker-of-gaucher-cell-burden-in-gaucher-patientsTest(8a7d9ba1-d543-4a67-8e19-bff56a0d5a4c).html