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المؤلفون: Helger G. Yntema, Amber Geerts-Haages, Stijn N V Bossuyt, Ype Elgersma, A. Mattijs Punt, Hennie T. Brüggenwirth, Alice S. Brooks, Marlies J. Valstar, Inge den Besten, Ben Distel, Ineke van der Burgt
المساهمون: Medical Biochemistry, Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Diabetes & metabolism, General Practice, Clinical Genetics, Neurosciences, Neurology
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, 8
Molecular genetics and genomic medicine, 8(11):e1481. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine, 8, 11
Molecular Genetics and Genomic Medicine, 8(11):e1481مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Developmental Disabilities, Ubiquitin-Protein Ligases, 030105 genetics & heredity, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Diagnosis, Differential, 03 medical and health sciences, Mice, Neurodevelopmental disorder, Mutant protein, Angelman syndrome, Enzyme Stability, Genetics, UBE3A, medicine, Missense mutation, Animals, Humans, Molecular Biology, Genetics (clinical), E3 protein ubiquitin ligase, Mutation, biology, Original Articles, medicine.disease, missense variant, Phenotype, Ubiquitin ligase, Pedigree, lcsh:Genetics, Protein Transport, 030104 developmental biology, HEK293 Cells, intellectual disability, biology.protein, Original Article, Female, Gene Deletion
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d986c6f9388eda6600fb52b362d90fc2Test
https://hdl.handle.net/2066/229329Test -
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المؤلفون: Tom Wagemans, Lies H. Hoefsloot, Lindsey Welling, Frits A. Wijburg, A. T. van der Ploeg, Olga L. Meijer, N. van Vlies, George J G Ruijter, Hennie T. Brüggenwirth, Marlies J. Valstar
المساهمون: Other departments, Laboratory Genetic Metabolic Diseases, Paediatric Metabolic Diseases, Clinical Genetics, Pediatrics
المصدر: Journal of inherited metabolic disease, 39(3), 437-445. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 39(3), 437-445. Springer Netherlandsمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Adolescent, Disease, macromolecular substances, medicine.disease_cause, Severity of Illness Index, 03 medical and health sciences, chemistry.chemical_compound, Mucopolysaccharidosis III, Young Adult, 0302 clinical medicine, Severity of illness, Acetylglucosaminidase, medicine, Genetics, Humans, Genetics(clinical), Glucosaminidase, Genetics (clinical), Cells, Cultured, Genetic Association Studies, Aged, Mutation, business.industry, Genetic disorder, Heparan sulfate, Fibroblasts, Middle Aged, medicine.disease, 030104 developmental biology, chemistry, Immunology, Allelic heterogeneity, Female, Original Article, Heparitin Sulfate, business, 030217 neurology & neurosurgery, Biomarkers
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1c1b433fbb308018cbe460a4aa72bfaTest
https://doi.org/10.1007/s10545-016-9916-2Test -
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المؤلفون: J. de Ruijter, F. A. Wijburg, Marlies J. Valstar
المصدر: Current pharmaceutical biotechnology. 12(6):923-930
مصطلحات موضوعية: Oncology, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genetic enhancement, medicine.medical_treatment, Pharmaceutical Science, Disease, Mucopolysaccharidosis type III, Hematopoietic stem cell transplantation, Mucopolysaccharidosis III, chemistry.chemical_compound, Internal medicine, medicine, Animals, Humans, Enzyme Replacement Therapy, Substrate reduction therapy, Sanfilippo syndrome, business.industry, Hematopoietic Stem Cell Transplantation, nutritional and metabolic diseases, Genetic Therapy, Enzyme replacement therapy, Heparan sulfate, medicine.disease, Endocrinology, chemistry, business, Molecular Chaperones, Biotechnology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::618c9aaa204d24e022d77df22daf9c7dTest
https://doi.org/10.2174/138920111795542651Test -
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المؤلفون: George J G Ruijter, Otto P. van Diggelen, Dicky J. Halley, Hennie T. Brüggenwirth, Ron A. Wevers, Marlies J. Valstar, Renske Olmer, Ben J. H. M. Poorthuis, Frits A. Wijburg, Sanne Neijs
المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Pediatrics, Clinical Genetics
المصدر: Annals of neurology, 68(6), 876-887. John Wiley and Sons Inc.
Annals of Neurology, 68, 876-87
Annals of Neurology, 68(6), 876-887. John Wiley & Sons Inc.
Annals of Neurology, 68, 6, pp. 876-87مصطلحات موضوعية: Male, Pathology, Hydrolases, Mucopolysaccharidosis, DNA Mutational Analysis, Behavioral Symptoms, Kaplan-Meier Estimate, Compound heterozygosity, Gastroenterology, Severity of Illness Index, Cohort Studies, Mucopolysaccharidosis III, Pregnancy, Genotype, Medicine, Missense mutation, Child, Mucopolysaccharidosis Type IIIA, Hearing Disorders, Cells, Cultured, Sanfilippo syndrome, Skin, Middle Aged, Phenotype, Neurology, Child, Preschool, Regression Analysis, Female, Functional Neurogenomics [DCN 2], Adult, Sleep Wake Disorders, medicine.medical_specialty, Adolescent, Vision Disorders, Mucopolysaccharidosis type III, Young Adult, SDG 3 - Good Health and Well-being, Internal medicine, Humans, Genetic Association Studies, Epilepsy, business.industry, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Mutation, Neurology (clinical), business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2a6cab4307795505b06f7a738cda5dTest
https://pure.eur.nl/en/publications/c4e808bb-9c46-4f16-b14c-bd400c3109b1Test -
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المؤلفون: Magdalena Narajczyk, Marlies J. Valstar, Willem M. van der Wal, Tom Wagemans, Frits A. Wijburg, Wim Kulik, Grzegorz Węgrzyn, Lodewijk IJlst, Jessica de Ruijter
المساهمون: Laboratory Genetic Metabolic Diseases, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other departments
المصدر: Annals of neurology, 71(1), 110-120. John Wiley and Sons Inc.
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genistein, Mucopolysaccharidosis type III, law.invention, Glycosaminoglycan, Mucopolysaccharidosis III, Young Adult, chemistry.chemical_compound, Double-Blind Method, Randomized controlled trial, law, Internal medicine, Humans, Medicine, Longitudinal Studies, Child, Aged, Glycosaminoglycans, chemistry.chemical_classification, Creatinine, Cross-Over Studies, business.industry, Heparan sulfate, Middle Aged, Crossover study, Endocrinology, Enzyme, Neurology, chemistry, Child, Preschool, Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::097e164d0e15d9d36e82a79c8dab0b41Test
https://pure.amc.nl/en/publications/genistein-in-sanfilippo-disease-a-randomized-controlled-crossover-trialTest(1b71a2e8-e8c5-4d78-bfc1-a96243eb95fc).html -
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المؤلفون: Frits A. Wijburg, Jan Pieter Marchal, Vivian Colland, Martha A. Grootenhuis, Marlies J. Valstar
المساهمون: Paediatric Metabolic Diseases, Graduate School, CCA -Cancer Center Amsterdam, APH - Amsterdam Public Health, Child and Adolescent Psychiatry & Psychosocial Care, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Orphanet journal of rare diseases, 6(1). BioMed Central
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 43 (2011)مصطلحات موضوعية: Aging, Pediatrics, medicine.medical_specialty, lcsh:Medicine, Mucopolysaccharidosis type III, Mucopolysaccharidosis III, Cognition, Intellectual disability, Cognitive development, Humans, Medicine, Genetics(clinical), Pharmacology (medical), In patient, Genetics (clinical), Sanfilippo syndrome, Medicine(all), business.industry, Research, lcsh:R, General Medicine, medicine.disease, Treatment efficacy, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aac1e6b2f59b2b227048d834e64a5dd0Test
https://doi.org/10.1186/1750-1172-6-43Test -
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المؤلفون: George J G Ruijter, Friederike Bürger, D. Eckert, Feikje van den Bos-Terpstra, Martinus F. Niermeijer, Fatih Süheyl Ezgü, Ron A. Wevers, Peter Elfferich, Ayşegül Tokatlı, Ben J. H. M. Poorthuis, Marja W. Wessels, Dicky J. Halley, Emil Simeonov, Otto P. van Diggelen, Hugues Puissant, Ad N. Bosschaart, Aida M. Bertoli-Avella, Heymut Omran, Marlies J. Valstar, Roxana Kariminejad, Mirella Filocamo, Barbara Czartoryska, Renske Olmer, Patrick J. Willems, Sanne Neijs, Bianca M. de Graaf
المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Pediatrics, Clinical Genetics, Pediatric Surgery
المصدر: Human mutation, 31(5), E1348-E1360. Wiley-Liss Inc.
Human Mutation, 31(5), E1348-+. Wiley-Liss Inc.
Human Mutation, 31, 5, pp. E1348-60
Human Mutation, 31, E1348-60مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Nonsense mutation, Neuroinformatics [DCN 3], Biology, Frameshift mutation, Mucopolysaccharidosis III, Young Adult, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Sanfilippo syndrome, Mucopolysaccharidosis Type IIID, Glycostation disorders [IGMD 4], N-acetylglucosamine-6-sulfatase, medicine.disease, Phenotype, Child, Preschool, Mutation, Mutation testing, Female, Sulfatases, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a772b434f131f7b8dbd45df3900cf5Test
https://avesis.gazi.edu.tr/publication/details/0d92a8ef-88ff-4eac-920d-2c0f1624a7c4/oaiTest -
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المؤلفون: Marlies J. Valstar, Alexey V. Pshezhetsky, R.M. van der Helm, Ron A. Wevers, George J G Ruijter, O. P. van Diggelen, Frits A. Wijburg, J.M. van de Kamp, Stéphanie Durand, Ben J. H. M. Poorthuis
المساهمون: Clinical Genetics, Pediatrics, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry
المصدر: Molecular Genetics and Metabolism, 93, 104-11
Molecular Genetics and Metabolism, 93(2), 104-111. Academic Press
Molecular Genetics and Metabolism, 93, 2, pp. 104-11
Molecular genetics and metabolism, 93(2), 104-111. Academic Press Inc.مصطلحات موضوعية: Proband, Adult, Male, Models, Molecular, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Adolescent, Genotype, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, Nonsense mutation, DNA Mutational Analysis, Mutation, Missense, Mucopolysaccharidosis type III, Neuroinformatics [DCN 3], Biochemistry, Mucopolysaccharidosis III, Endocrinology, SDG 3 - Good Health and Well-being, Acetyltransferases, Internal medicine, Genetics, Perception and Action [DCN 1], Medicine, Missense mutation, Humans, Age of Onset, Child, Molecular Biology, Sanfilippo syndrome, Netherlands, Mucopolysaccharidosis Type IIIC, business.industry, Infant, DNA, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Phenotype, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Mutation, Female, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25060cdf99abe977f001da1b3cd6cb4aTest
http://hdl.handle.net/2066/69547Test -
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المؤلفون: O. P. van Diggelen, Ben J. H. M. Poorthuis, Frits A. Wijburg, Marlies J. Valstar, George J G Ruijter
المساهمون: Clinical Genetics, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry
المصدر: Journal of Inherited Metabolic Disease, 31(2), 240-252. Springer Netherlands
Journal of inherited metabolic disease, 31(2), 240-252. Springer Netherlandsمصطلحات موضوعية: Adult, medicine.medical_specialty, Time Factors, Adolescent, Hydrolases, Mucopolysaccharidosis type III, Disease, Bioinformatics, Mucopolysaccharidosis III, Young Adult, Acetyltransferases, Internal medicine, Miglustat, Acetylglucosaminidase, Genetics, medicine, Animals, Humans, Genetic Predisposition to Disease, Child, Mucopolysaccharidosis Type IIIA, Genetics (clinical), Sanfilippo syndrome, Mucopolysaccharidosis Type IIIC, business.industry, Incidence, Infant, Enzyme replacement therapy, medicine.disease, Prognosis, Endocrinology, Phenotype, Child, Preschool, Heparitin Sulfate, Sulfatases, business, Lysosomes, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d652bd2df2e0e0af3970b32b3634faa6Test
https://pubmed.ncbi.nlm.nih.gov/18392742Test -
10دورية أكاديمية
المؤلفون: Marlies J. Valstar, Hennie T. Bruggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. Poorthuis, Dicky J. Halley, Frits A. Wijburg, R. A. Wevers, B. J. Poorthuis, F. A. Wijburg
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/bc/ed/J_Inherit_Metab_Dis_2010_Dec_18_33(6)_759-767.tar.gz
وصف الملف: application/zip
