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1دورية أكاديمية
المؤلفون: R. M. J. Thewissen, M. A. Post, D. M. Maas, R. Veizaj, I. Wagenaar, M. Alsady, J. Kools, K. Bouman, H. Zweers, P. G. Meregalli, A. J. van derKooi, P. A. vanDoorn, J. T. Groothuis, D. J. Lefeber, N. C. Voermans
المصدر: JIMD Reports, Vol 65, Iss 3, Pp 171-181 (2024)
مصطلحات موضوعية: alpha‐dystroglycan, CDP‐ribitol, FKRP, muscular dystrophy, ribose, trial, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2192-8312
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2
المؤلفون: F. J. van Spronsen, Rienk Y. J. Tamminga, Willem Kamps, D. J. Lefeber
المساهمون: Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)
المصدر: Pediatric hematology and oncology, 25(8):906491636, 762-768. TAYLOR & FRANCIS INC
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, PHOSPHOMANNOSE ISOMERASE DEFICIENCY, Glycosylation, Mannose, COAGULATION ABNORMALITIES, Gastroenterology, coagulopathy, chemistry.chemical_compound, congenital disorder of glycosylation, Jaeken syndrome, HYPOGLYCEMIA, Recurrence, Thromboembolism, Internal medicine, Consumptive Coagulopathy, Coagulopathy, Humans, Medicine, Risk factor, thrombosis, business.industry, mannose, Hematology, medicine.disease, Thrombosis, Blood Coagulation Factors, Venous thrombosis, Oncology, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Female, CDG, DEFICIENT GLYCOPROTEIN SYNDROME, business, Congenital disorder of glycosylation, Carbohydrate Metabolism, Inborn Errors
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3
المؤلفون: B.P.C. van de Warrenburg, Anton Schattenberg, D. J. Lefeber, Dietger Niederwieser, Nicole M. A. Blijlevens, Wil A. Allebes, Nicolaas Schaap, B.A. van der Reijden, Haifa Kathrin Al-Ali, Hannie Kremer, Frank Preijers, L. D. de Hosson
المصدر: Bone Marrow Transplantation, 46, 1071-6
Bone Marrow Transplantation, 46, 8, pp. 1071-6مصطلحات موضوعية: Invasive mycoses and compromised host Translational research [N4i 2], Adult, Male, medicine.medical_specialty, ARYLSULFATASE, Adolescent, Lymphocyte, review, Neuroinformatics [DCN 3], Auto-immunity, transplantation and immunotherapy [N4i 4], complex mixtures, metachromatic leukodystrophy, DISEASE, allo-SCT, HEMATOPOIETIC-CELL TRANSPLANTATION, Chimera (genetics), HETEROZYGOTES, Young Adult, Translational research [ONCOL 3], medicine, Humans, Hurler syndrome, NERVE-CONDUCTION, Immune Regulation Translational research [NCMLS 2], Transplantation, GRAFT FAILURE, OUTCOMES, Arylsulphatase A, business.industry, Adult metachromatic leukodystrophy, Hematopoietic Stem Cell Transplantation, Hematology, Allo sct, Leukodystrophy, Metachromatic, medicine.disease, BONE-MARROW-TRANSPLANTATION, Surgery, Metachromatic leukodystrophy, medicine.anatomical_structure, surgical procedures, operative, RELIABILITY, MLD, Female, HURLER-SYNDROME, Perception and Action Glycostation disorders [DCN 1], business, Functional Neurogenomics [DCN 2], SCT
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4
المؤلفون: N C, Voermans, M, Guillard, R, Doedée, M, Lammens, M, Huizing, G W, Padberg, R A, Wevers, B G, van Engelen, D J, Lefeber
المصدر: Clinical neuropathology. 29(2)
مصطلحات موضوعية: Adult, Male, Siblings, DNA Mutational Analysis, Neuraminidase, Magnetic Resonance Imaging, Polymerase Chain Reaction, Article, Myositis, Inclusion Body, Peanut Agglutinin, Multienzyme Complexes, Humans, Female, Isoelectric Focusing, Frameshift Mutation, Muscle, Skeletal
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ab70a9f304ffee3ed63645a37c7b9c32
https://pubmed.ncbi.nlm.nih.gov/20175955 -
5
المؤلفون: Peter Joseph Jongen, D. J. Lefeber, Marcel M. Verbeek
المصدر: Acta Neurologica Scandinavica, 121, 5, pp. 356-7
Acta Neurologica Scandinavica, 121, 356-7مصطلحات موضوعية: Neurology, business.industry, Multiple sclerosis, Immunology, medicine, Neurology (clinical), General Medicine, Neuroinformatics [DCN 3], Glycostation disorders [IGMD 4], medicine.disease, business, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dabe6bd8206cd69e9c77e09eed19dda
https://hdl.handle.net/2066/87245 -
6
المؤلفون: W M A, Verhoeven, R, Csepán, C L M, Marcelis, D J, Lefeber, J I M, Egger, S, Tuinier
المصدر: Acta psychiatrica Scandinavica. 122(2)
مصطلحات موضوعية: Chromosome Aberrations, Brain, Genes, Recessive, Middle Aged, Magnetic Resonance Imaging, Diagnosis, Differential, Mucopolysaccharidosis III, Alzheimer Disease, Intellectual Disability, Acetylglucosaminidase, Humans, Female, Heparitin Sulfate, Atrophy
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7
المؤلفون: D J, Lefeber, J P, Kamerling, J F, Vliegenthart
المصدر: Chemistry (Weinheim an der Bergstrasse, Germany). 7(20)
مصطلحات موضوعية: Pneumococcal Vaccines, Streptococcus pneumoniae, Adjuvants, Immunologic, Bacterial Proteins, Hemocyanins, Polysaccharides, Bacterial, Tetanus Toxoid, Oligosaccharides, Carrier Proteins, Bacterial Capsules, Glycoproteins