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