المؤلفون: Shoichiro Ohta, Ulf Hammar, Cilla Söderhäll, Barbro Dahlén, Kenji Izuhara, Sven-Erik Dahlén, Maciej Kupczyk, Juha Kere, Anna James, Elisabeth H. Bel, Rolf G. Boot, Junya Ono, Lovisa E. Reinius, Marri Verhoek, Anna Gomes

المساهمون: Other departments, AII - Amsterdam institute for Infection and Immunity, Pulmonology

المصدر: AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
American Journal of Respiratory and Critical Care Medicine, 193(2), 131-142. AMER THORACIC SOC
American journal of respiratory and critical care medicine, 193(2), 131-142. American Thoracic Society
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 193(2), 131-142

مصطلحات موضوعية: Male, 0301 basic medicine, AIRWAY INFLAMMATION, Disease, Critical Care and Intensive Care Medicine, Severity of Illness Index, Pulmonary Disease, Chronic Obstructive, chitotriosidase, 0302 clinical medicine, Lectins, Multicenter Studies as Topic, Longitudinal Studies, Young adult, Chitinase-3-Like Protein 1, COPD, CHITINASE-LIKE PROTEIN, Smoking, GENETIC-VARIATION, Middle Aged, Europe, LUNG-FUNCTION, Hexosaminidases, ATOPIC ASTHMA, Disease Progression, Regression Analysis, Female, Steroids, Adult, Pulmonary and Respiratory Medicine, medicine.medical_specialty, YKL-40, Adolescent, MAMMALIAN CHITINASE, Adipokine, CHI3L1, chronic obstructive pulmonary disease, Young Adult, 03 medical and health sciences, Adipokines, Internal medicine, 3-LIKE 1, Severity of illness, medicine, Humans, ALLERGEN CHALLENGE, MATRIX PROTEIN, Aged, Asthma, Polymorphism, Genetic, business.industry, GLYCOSYL HYDROLASES, asthma, medicine.disease, respiratory tract diseases, 030104 developmental biology, 030228 respiratory system, Immunology, business, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fd11685d715b2e1a44c7d991a228aeTest
https://doi.org/10.1164/rccm.201504-0760ocTest

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: Marri Verhoek, Hermen S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Wouter W. Kallemeijn, Tineke Voorn-Brouwer, Martin D. Witte, Saskia Scheij

المساهمون: Chemical Biology 2, Other departments, Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Amsterdam Cardiovascular Sciences

المصدر: ChemBioChem, 17(18), 1698-1704. WILEY-V C H VERLAG GMBH
Chembiochem, 17(18), 1698-1704. Wiley-VCH Verlag

مصطلحات موضوعية: 0301 basic medicine, In situ, Glycan, genetic structures, activity-based probes, EGCaseII, Recombinant Fusion Proteins, Context (language use), Biology, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, RETAINING BETA-GLUCOSIDASES, Biotin, fluorescent probes, Mannosidases, Rhodococcus, LIVING CELLS, Molecular Biology, protein expression, Fluorescent Dyes, CELL-SURFACE GLYCOSPHINGOLIPIDS, SINGLET OXYGEN, PURIFICATION, ENDOGLYCOCERAMIDASE, Molecular Structure, DERIVATIVES, IN-SITU, Organic Chemistry, Fluorescence, Fusion protein, LIVE CELLS, In vitro, in-gel imaging, CYCLOPHELLITOL, 030104 developmental biology, chemistry, biology.protein, microscopy, Molecular Medicine, Conduritol

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::401cc5ca43b156bbcf98a0fe06a90a18Test
https://pubmed.ncbi.nlm.nih.gov/27383447Test

المؤلفون: Johannes M. F. G. Aerts, Anton P. Bussink, Jocelyne Vreede, Wilma E. Donker-Koopman, Marri Verhoek, Carla E. M. Hollak, Karen Ghauharali-van der Vlugt, Rolf G. Boot, Richard R. Sprenger

المصدر: FEBS Journal. 276:5678-5688

مصطلحات موضوعية: Glycosylation, biology, Single-nucleotide polymorphism, Cell Biology, Biochemistry, law.invention, chemistry.chemical_compound, Protein structure, chemistry, law, Chitinase, Recombinant DNA, biology.protein, In patient, Allele, Molecular Biology, Allele frequency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1501ff514bbb263461c8c874783aa001Test
https://doi.org/10.1111/j.1742-4658.2009.07259.xTest

المؤلفون: Anneke Strijland, Rolf G. Boot, Tom Wennekes, Jan van Marle, Wilma E. Donker-Koopman, Johannes M. F. G. Aerts, Hermen S. Overkleeft, Marri Verhoek

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

المصدر: Journal of Biological Chemistry, 282(2), 1305-1312
Journal of biological chemistry, 282(2), 1305-1312. American Society for Biochemistry and Molecular Biology Inc.
ResearcherID

مصطلحات موضوعية: Detergents, Molecular Sequence Data, Biology, Glucosylceramides, Transfection, Biochemistry, Bile Acids and Salts, Mice, Membrane Microdomains, RNA interference, Chlorocebus aethiops, Animals, Humans, Spermatogenesis, Molecular Biology, chemistry.chemical_classification, Gaucher Disease, COS cells, beta-Glucosidase, Glucosylceramidase activity, Cell Biology, Glucosylceramidase, Enzyme, chemistry, COS Cells, Lysosomes, Sphingomyelin, Glucocerebrosidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea6b77f40aaafe6ddd83efa6a84b8336Test
https://doi.org/10.1074/jbc.m610544200Test

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: Rolf G. Boot, Marcel M.A.M. Mannens, G. H. Renkema, Marri Verhoek, Jet Bliek, Anneke Strijland, T.M.A.M.O. de Meulemeester, Johannes M. F. G. Aerts

المصدر: Journal of Biological Chemistry. 273:25680-25685

مصطلحات موضوعية: Genetics, Mutation, Sequence analysis, Chromosome, Cell Biology, Biology, medicine.disease_cause, Biochemistry, Molecular biology, Exon, Complementary DNA, RNA splicing, Gene duplication, medicine, Molecular Biology, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6985e9130930e5b852d4b8305f87c34cTest
https://doi.org/10.1074/jbc.273.40.25680Test

المؤلفون: Sonja van Weely, Johannes M. F. G. Aerts, Rolf G. Boot, Marri Verhoek, Marcel M.A.M. Mannens, Carla E. M. Hollak, Ben J. H. M. Poorthuis, Wim J. Kleijer, P. Sloof, Ron A. Wevers, Marinus H. J. van Oers

المساهمون: Other departments

المصدر: Human Mutation, 10, 5, pp. 348-358
Human Mutation, 10, 348-358
Human Mutation, 10, pp. 348-358
Human mutation, 10(5), 348-358. Wiley-Liss Inc.

مصطلحات موضوعية: Genetics, Neuromusculaire en neurometabole ziekten, Disease, Biology, medicine.disease, Glucosylceramidase, Gaucher's disease, Genotype, Immunology, medicine, Allele, Age of onset, Genotyping, Glucocerebrosidase, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8737e0e75e8a6e7a2feb880d0124665eTest
https://doi.org/10.1002Test/(sici)1098-1004(1997)10:5<348::aid-humu3>3.3.co;2-n

المؤلفون: Anton P, Bussink, Marri, Verhoek, Jocelyne, Vreede, Karen, Ghauharali-van der Vlugt, Wilma E, Donker-Koopman, Richard R, Sprenger, Carla E, Hollak, Johannes M F G, Aerts, Rolf G, Boot

المصدر: The FEBS journal. 276(19)

مصطلحات موضوعية: Models, Molecular, Gaucher Disease, Glycosylation, Base Sequence, Protein Conformation, In Vitro Techniques, Polymorphism, Single Nucleotide, Recombinant Proteins, Substrate Specificity, Hexosaminidases, Amino Acid Substitution, Gene Frequency, Humans, Thermodynamics, Umbelliferones, Trisaccharides, Alleles, Hymecromone, DNA Primers, Netherlands

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::2d4a2deaad8ea1247a2ba2426779618dTest
https://pubmed.ncbi.nlm.nih.gov/19725875Test

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