المؤلفون: Daniela Herrera Moro, Bogdan I. Florea, Timothy M. Cox, Olivier R. Martin, Marri Verhoek, Saskia Scheij, André R. A. Marques, Nee Na Kim, Wouter W. Kallemeijn, Rolf G. Boot, Jessica K. Nelson, Herman S. Overkleeft, Lianne I. Willems, Roelof Ottenhoff, Johannes M. F. G. Aerts, Cindy P. A. A. van Roomen, M. Begoña Cachón-González, Anna Biela-Banas

المساهمون: Medical Biochemistry, Graduate School, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Cardiovascular Sciences, ACS - Atherosclerosis & ischemic syndromes, ACS - Diabetes & metabolism

المصدر: Chembiochem, 18(4), 402-412. Wiley-VCH Verlag

مصطلحات موضوعية: 0301 basic medicine, 010402 general chemistry, medicine.disease_cause, 01 natural sciences, Biochemistry, 03 medical and health sciences, Galactosylceramidase, Hydrolase, medicine, Beta-galactosidase, Molecular Biology, chemistry.chemical_classification, Mutation, biology, Molecular Structure, Organic Chemistry, medicine.disease, 0104 chemical sciences, Leukodystrophy, Globoid Cell, Lysosomal Storage Diseases, 030104 developmental biology, Enzyme, chemistry, Molecular Probes, biology.protein, Krabbe disease, Molecular Medicine, Specific activity, Molecular probe, Deficiency Diseases

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5408323f10bcb551113378d4c12edaaaTest
https://hdl.handle.net/1887/3199629Test

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, 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: 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 Netherlands

مصطلحات 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

المؤلفون: Johannes M. F. G. Aerts, Nick Dekker, Dave Speijer, Tom Wennekes, Rolf G. Boot, Carla E. M. Hollak, Hermen S. Overkleeft, Marri Verhoek, Tineke Voorn-Brouwer, Ravi S. Narayan

المساهمون: Medical Biochemistry, Other departments, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam institute for Infection and Immunity, Endocrinology, Amsterdam Cardiovascular Sciences

المصدر: Blood Cells Molecules and Diseases, 46(1), 19-26
Blood cells, molecules & diseases, 46(1), 19-26. Academic Press Inc.
Blood Cells Molecules and Diseases 46 (2011) 1

مصطلحات موضوعية: Models, Molecular, marked elevation, human-liver, phenotype, specificity, Spleen, deglycosylation, beta-glucosidase-2, Biology, medicine.disease_cause, Cell Line, Substrate Specificity, law.invention, GBA3, law, Chlorocebus aethiops, medicine, Animals, Humans, klotho-related protein, Molecular Biology, Gene, VLAG, chemistry.chemical_classification, Mutation, Gaucher Disease, glucocerebrosidase, beta-Glucosidase, Organic Chemistry, Cell Biology, Hematology, Molecular biology, Organische Chemie, Open reading frame, HEK293 Cells, medicine.anatomical_structure, Enzyme, chemistry, Biochemistry, COS Cells, nonlysosomal glucosylceramidase, Recombinant DNA, Molecular Medicine, identification, Glucocerebrosidase

وصف الملف: application/octet-stream; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84ae1582b3ade53f1f60251faa5c2a76Test
https://research.wur.nl/en/publications/the-cytosolic-b-glucosidase-gba3-does-not-influence-type-1-gaucheTest

المؤلفون: Johannes M. F. G. Aerts, Sonja van Weely, Helen Michelakakis, Marina Moraitou, Marri Verhoek, E. Dimitriou

المساهمون: Other departments

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1536(2-3), 97-102. Elsevier
ResearcherID

مصطلحات موضوعية: Adult, Adolescent, Genotype, Biology, Polymerase Chain Reaction, law.invention, law, Humans, Codon, Deoxyribonucleases, Type II Site-Specific, Molecular Biology, Polymerase chain reaction, Glucuronidase, Genetics, Gaucher Disease, Greece, Infant, Newborn, Molecular biology, Phenotype, Infant newborn, Restriction enzyme, Hexosaminidases, Mutation (genetic algorithm), Mutation, Molecular Medicine, Pcr method

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28117137fc6d03939d3018940ba06381Test
https://pubmed.ncbi.nlm.nih.gov/11406344Test