المؤلفون: Ari Zimran, Jeff Szer, Michal Becker-Cohen, Sjoerd Jens, Claudia Cozma, Shoshana Revel-Vilk

المصدر: Journal of Clinical Medicine; Volume 12; Issue 6; Pages: 2220

مصطلحات موضوعية: bone marrow, enzyme replacement therapy, Gaucher disease, quantitative chemical shift imaging, treatment switch

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/jcm12062220Test

الإتاحة: https://doi.org/10.3390/jcm12062220Test

المؤلفون: Carla E. M. Hollak, Laura van Dussen, Tama Dinur, Hannah Maayan, Mario Maas, Gheona Altarescu, Ari Zimran, Eric M. Akkerman, Shoshana Revel-Vilk, Raul Chertkoff

المساهمون: Radiology and Nuclear Medicine, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, AMS - Sports & Work, ANS - Cellular & Molecular Mechanisms

المصدر: Journal of Inherited Metabolic Disease
Journal of inherited metabolic disease, 41(6), 1259-1265. Springer Netherlands

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Imiglucerase, Bone marrow infiltration, Bone response, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Bone Marrow, Internal medicine, Genetics, medicine, Humans, In patient, Israel, Genetics (clinical), Aged, Gaucher Disease, business.industry, Type 1 Gaucher Disease, Enzyme replacement therapy, Middle Aged, Taliglucerase alfa, Quantitative chemical shift imaging, 030104 developmental biology, medicine.anatomical_structure, Treatment Outcome, Adipose Tissue, 030220 oncology & carcinogenesis, Glucosylceramidase, Female, Original Article, Bone marrow, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0e8c48ba5f75e474abc4737c0d91759Test
https://pubmed.ncbi.nlm.nih.gov/30066229Test

المؤلفون: C.E.M. Hollak, Wouter Meersseman, Eva Morava, M. F. Mulder, Dirk J. Lefeber, Frits A. Wijburg, Johannes M. F. G. Aerts, David Cassiman, Gepke Visser, E S de Sonnaville, Erik M. Akkerman, Ben J. H. M. Poorthuis, Marcel M.A.M. Mannens, K. E. Niezen-Koning, Ron A. Wevers, Gabor E. Linthorst, Johanna E. M. Groener

المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatric surgery, CCA - Innovative therapy, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Medical Biochemistry, ACS - Amsterdam Cardiovascular Sciences, ARD - Amsterdam Reproduction and Development, Human Genetics, ANS - Amsterdam Neuroscience, Radiology and Nuclear Medicine, Paediatric Metabolic Diseases

المصدر: Molecular Genetics and Metabolism, 107, 3, pp. 526-33
Molecular Genetics and Metabolism, 107(3), 526-533. ACADEMIC PRESS INC ELSEVIER SCIENCE
Hollak, C E M, de Sonnaville, E S V, Cassiman, D, Linthorst, G E, Groener, J E, Morava, E, Wevers, R A, Mannens, M, Aerts, J M F G, Meersseman, W, Akkerman, E, Niezen-Koning, K E, Mulder, M F, Visser, G, Wijburg, A, Lefeber, D & Poorthuis, B J H M 2012, ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients ', Molecular Genetics and Metabolism, vol. 107, no. 3, pp. 526-533 . https://doi.org/10.1016/j.ymgme.2012.06.015Test
Molecular Genetics and Metabolism, 107(3), 526-533. Academic Press Inc.
Molecular genetics and metabolism, 107(3), 526-533. Academic Press Inc.
Molecular Genetics and Metabolism, 107, 526-33

مصطلحات موضوعية: Male, Pathology, NIEMANN-PICK-DISEASE, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Gastroenterology, Severity of Illness Index, Pulmonary function testing, GAUCHER-DISEASE, Endocrinology, Belgium, Prospective Studies, Child, Lung, Netherlands, Niemann-Pick disease type B, Enzyme replacement therapy, Niemann-Pick Disease, Type B, Middle Aged, Niemann-Pick Disease, Type A, INTERMEDIATE PHENOTYPE, Respiratory Function Tests, PREVALENCE, medicine.anatomical_structure, Sphingomyelin Phosphodiesterase, Child, Preschool, Female, Niemann–Pick disease, Hepatomegaly, Adult, medicine.medical_specialty, Adolescent, Anemia, DISORDERS, BONE-MARROW, Genomic disorders and inherited multi-system disorders [IGMD 3], Internal medicine, Genetics, medicine, Humans, CHITOTRIOSIDASE, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Molecular Biology, DCN NN - Brain networks and neuronal communication, Retrospective Studies, Cytopenia, business.industry, MUTATIONS, Infant, Glycostation disorders [IGMD 4], medicine.disease, Quantitative chemical shift imaging, Mutation, Splenomegaly, Acid sphingomyelinase (ASM) deficiency, Bone marrow, Pulmonary disease, business, Tomography, X-Ray Computed, Visceromegaly, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cffb6f2735ad337822712453fbd80ceTest
https://doi.org/10.1016/j.ymgme.2012.06.015Test

المؤلفون: Hollak, C. E. M., de Sonnaville, E. S. V., Cassiman, D., Linthorst, G. E., Groener, J. E., Morava, E., Wevers, R. A., Mannens, M., Aerts, J. M. F. G., Meersseman, W., Akkerman, E., Niezen-Koning, K. E., Mulder, M. F., Visser, G., Wijburg, F. A., Lefeber, D., Poorthuis, B. J. H. M.

المصدر: Hollak , C E M , de Sonnaville , E S V , Cassiman , D , Linthorst , G E , Groener , J E , Morava , E , Wevers , R A , Mannens , M , Aerts , J M F G , Meersseman , W , Akkerman , E , Niezen-Koning , K E , Mulder , M F , Visser , G , Wijburg , F A , Lefeber , D & Poorthuis , B J H M 2012 , ' Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium : Disease ....

مصطلحات موضوعية: Niemann-Pick disease type B, Acid sphingomyelinase (ASM) deficiency, Enzyme replacement therapy, Pulmonary disease, Quantitative chemical shift imaging, Chitotriosidase, NIEMANN-PICK-DISEASE, GAUCHER-DISEASE, BONE-MARROW, INTERMEDIATE PHENOTYPE, PREVALENCE, DISORDERS, MUTATIONS

العلاقة: https://research.rug.nl/en/publications/294a8d52-2475-4053-8a8d-081e2a6bb0bfTest

الإتاحة: https://doi.org/10.1016/j.ymgme.2012.06.015Test
https://hdl.handle.net/11370/294a8d52-2475-4053-8a8d-081e2a6bb0bfTest
https://research.rug.nl/en/publications/294a8d52-2475-4053-8a8d-081e2a6bb0bfTest