المؤلفون: Johannes M. F. G. Aerts, Marri Verhoek, Timothy M. Cox, Elena Pavlova, Wilma E. Donker-Koopman, Rolf G. Boot, Jessica K. Nelson, Gert Jan Kramer, Wouter W. Kallemeijn, Mary Teresa Moran, Wouter Wegdam, Roelof Ottenhoff, Jon D. Laman, Marco van Eijk, Paulo Gaspar, Tanit L. Gabriel, Johannes P. C. Vissers

المساهمون: Cox, Timothy [0000-0002-4951-9941], Pavlova, Elena [0000-0003-0187-5098], Apollo - University of Cambridge Repository, Molecular Neuroscience and Ageing Research (MOLAR), Translational Immunology Groningen (TRIGR), Other departments, Graduate School, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, AII - Amsterdam institute for Infection and Immunity

المصدر: FEBS Open Bio
FEBS Open Bio, 6(9), 902-913. Wiley-Blackwell
FEBS Open Bio, 6(9), 902-913. Wiley Open Access
FEBS open bio, 6(9), 902-913. Wiley-Blackwell

مصطلحات موضوعية: 0301 basic medicine, DC-HIL, EXPRESSION, GLUCOCEREBROSIDASE, Pathology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic enhancement, Cell, DC‐HIL, Biology, storage disease, PHENOTYPE, osteoactivin, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, chitotriosidase, Lysosome, glucosylceramide, medicine, CELL, Research Articles, GPNMB, PLASMA, CCL18, GENE-THERAPY, nutritional and metabolic diseases, FORMATION IN-VIVO, Phenotype, 3. Good health, MARKED ELEVATION, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, DIFFERENTIATION, lysosome, Biomarker (medicine), Glucocerebrosidase, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9904b801f366cbc06c3d1033778f123cTest
https://www.repository.cam.ac.uk/handle/1810/289591Test

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, 28

مصطلحات 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

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 Netherlands

مصطلحات 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

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

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/publicationsTest/ccl18-a-urinary-marker-of-gaucher-cell-burden-in-gaucher-patients(8a7d9ba1-d543-4a67-8e19-bff56a0d5a4c).html

المؤلفون: S Altun, J. Sarafidou, Marina Moraitou, E. Dimitriou, Helen Michelakakis, H Aerts, Fotis Karabatsos, Rolf G. Boot, Jacqueline Youssef, Marri Verhoek, Markissia Karagiorga

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

المصدر: Blood cells, molecules & diseases, 35(3), 328-331. Academic Press Inc.
ResearcherID

مصطلحات موضوعية: Adult, medicine.medical_specialty, Chemokine, Adolescent, Gastroenterology, Internal medicine, Genotype, medicine, Humans, In patient, Child, Molecular Biology, Gaucher Disease, biology, Greece, business.industry, beta-Thalassemia, Wild type, CCL18, Infant, Newborn, Beta thalassemia, Infant, Cell Biology, Hematology, Middle Aged, medicine.disease, Ferritin, Hexosaminidases, Chemokines, CC, Child, Preschool, Immunology, Cohort, biology.protein, Molecular Medicine, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e88d3813b7c2c38728d4c680275da57eTest
https://pure.amc.nl/en/publications/elevated-plasma-chemokine-ccl18parc-in-betathalassemiaTest(3741d81d-316b-4688-a0e5-0f83a28381a1).html

المؤلفون: Mary Teresa Moran, Boris Bleijlevens, Mario Maas, Maaike de Fost, Timothy M. Cox, Johannes M. F. G. Aerts, Marri Verhoek, Carla E. M. Hollak, Rolf G. Boot, Leonie A. Boven, Mariëlle J. van Breemen, Marjan van Meurs, Jon D. Laman

المساهمون: Immunology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Clinical Haematology, AMS - Amsterdam Movement Sciences, Radiology and Nuclear Medicine, Other departments

المصدر: Blood, 103, 33-39. American Society of Hematology
Blood, 103(1), 33-39. American Society of Hematology
ResearcherID

مصطلحات موضوعية: Adult, Male, Chemokine, congenital, hereditary, and neonatal diseases and abnormalities, Imiglucerase, Adolescent, Immunology, Disease, Biochemistry, law.invention, law, Medicine, Humans, Child, Aged, Gaucher Disease, biology, business.industry, Surrogate endpoint, CCL18, nutritional and metabolic diseases, Cell Biology, Hematology, Middle Aged, Recombinant Proteins, Hexosaminidases, Case-Control Studies, Chemokines, CC, biology.protein, Recombinant DNA, Immunohistochemistry, Glucosylceramidase, Female, business, Glucocerebrosidase, Biomarkers, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2928ea34b706a0c679e6470220bf1c23Test
https://pubmed.ncbi.nlm.nih.gov/12969956Test