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المؤلفون: Helenius J. Schelhaas, Saskia Langemeijer, B.P.C. van de Warrenburg, R.A. Wevers, Cathérine C.S. Delnooz, Machiel J. Zwarts, Dirk J. Lefeber, Gabriele Dekomien, S Hoffjan, B.G.M. van Engelen
المصدر: Journal of Neurology, Neurosurgery, and Psychiatry, 81, 968-72
Journal of Neurology, Neurosurgery, and Psychiatry, 81, 9, pp. 968-72مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Cerebellar Ataxia, beta-Hexosaminidase beta Chain, Gangliosidosis, Sandhoff disease, Neuroinformatics [DCN 3], Lower motor neuron, Central nervous system disease, Internal medicine, Acetylglucosaminidase, medicine, Humans, Age of Onset, Motor Neuron Disease, Cerebellar ataxia, Psychomotor retardation, Sandhoff Disease, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Magnetic Resonance Imaging, HEXB, Psychiatry and Mental health, Endocrinology, medicine.anatomical_structure, Phenotype, Immunology, Mutation, Surgery, Female, Neurology (clinical), medicine.symptom, Age of onset, Psychology, Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae9a8a229c45db78bfd1bdd3304e40c2Test
https://hdl.handle.net/2066/89651Test -
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المؤلفون: Johann Penzien, Michèl A.A.P. Willemsen, Olaf Bodamer, Dirk J. Lefeber, Ron A. Wevers, Jorg de Ruijter, Arjan P.M. de Brouwer, Tony Roscioli, Lambert P. van den Heuvel, Eva Morava, Maïlys Guillard
المصدر: Guillard, M, Morava, E, de Ruijter, J, Roscioli, T, Penzien, J, van, D H L, Willemsen, MA, de, B A, Bodamer, OA, Wevers, RA & Lefeber, DJ 2011, ' B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement ', The Journal of Pediatrics, vol. 159, no. 6, pp. 1041-1043.e2 . https://doi.org/10.1016/j.jpeds.2011.08.007Test
Journal of Pediatrics, 159, 1041-1043 e2
Journal of Pediatrics, 159, 6, pp. 1041-1043 e2مصطلحات موضوعية: Male, Glycosylation, GALACTOSYLTRANSFERASE DEFICIENCY, Single-nucleotide polymorphism, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Medicine, SNP, Humans, Pediatrics, Perinatology, and Child Health, Clinical phenotype, Child, Psychomotor learning, business.industry, Liver Diseases, Glycostation disorders [IGMD 4], Galactosyltransferases, Phenotype, Multisystem disease, Intestinal Diseases, chemistry, Pediatrics, Perinatology and Child Health, Immunology, Female, business, Perception and Action Glycostation disorders [DCN 1], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Functional Neurogenomics [DCN 2]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10368a016a5a0b03c58e412ff9be61eTest
https://doi.org/10.1016/j.jpeds.2011.08.007Test -
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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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dabe6bd8206cd69e9c77e09eed19ddaTest
https://hdl.handle.net/2066/87245Test -
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المؤلفون: Dirk Lefeber, Ron A. Wevers, Ingrid Hausser, Uwe Kornak, Beate Albrecht, Nick Rossen, Eva Morava, Kirsten Cremer, Saskia B. Wortmann, Arjan P.M. de Brouwer
المصدر: American Journal of Medical Genetics. Part A, 152A, 11, pp. 2916-8
American Journal of Medical Genetics. Part A, 152A, 2916-8مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Foot Deformities, Congenital, Genetics and epigenetic pathways of disease [NCMLS 6], Golgi Apparatus, Biology, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], symbols.namesake, Pregnancy, Genetics, medicine, Humans, Abnormalities, Multiple, Elastin metabolism, Genetics (clinical), MACS SYNDROME, Infant, Newborn, Dermis, Syndrome, Golgi apparatus, Glycostation disorders [IGMD 4], Elastin, Transport protein, Protein Transport, Collagen metabolism, Immunology, symbols, biology.protein, Female, Collagen, Hand Deformities, Congenital, Functional Neurogenomics [DCN 2]
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ebd75b40b3141b6471625c5351a98bTest
https://hdl.handle.net/2066/87351Test -
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المؤلفون: Maciej Adamowicz, Justyna Paprocka, Elzbieta Marszał, Dariusz Adamek, Ron A. Wevers, Ewa Jamroz
المصدر: Journal of Child Neurology, 24, 13-8
Journal of Child Neurology, 24, 1, pp. 13-8مصطلحات موضوعية: Ataxia, Glycosylation, Energy and redox metabolism [NCMLS 4], Autopsy, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, medicine, Perception and Action [DCN 1], Humans, Allele, Pathological, Psychomotor retardation, Infant, Glycostation disorders [IGMD 4], Hypotonia, chemistry, Phosphotransferases (Phosphomutases), Pediatrics, Perinatology and Child Health, Immunology, Cytomegalovirus Infections, Female, Neurology (clinical), medicine.symptom, Functional Neurogenomics [DCN 2], Phosphomannomutase
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64c3cad2e32a9c9faf2ff1626bb49f10Test
https://doi.org/10.1177/0883073808321041Test -
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المؤلفون: Sascha Vermeer, Gert Matthijs, Ron A. Wevers, Hannie Kremer, Hans Scheffer, Dirk J. Lefeber, Eva Morava, N A V M Knoers, Q H Leijten
المصدر: Journal of Neurology, 254, 10, pp. 1356-8
Journal of Neurology, 254, 1356-8مصطلحات موضوعية: Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Neurology, Health aging / healthy living [IGMD 5], Energy and redox metabolism [NCMLS 4], Adolescent, Cerebellar Ataxia, Membrane transport and intracellular motility [NCMLS 5], Biology, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Congenital Disorders of Glycosylation, Cognitive neurosciences [UMCN 3.2], medicine, Perception and Action [DCN 1], Humans, Child, Cerebellar hypoplasia, Renal disorder [IGMD 9], chemistry.chemical_classification, Cerebellar ataxia, Transferrin, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Mitochondrial medicine [IGMD 8], chemistry, Genetic defects of metabolism [UMCN 5.1], Phosphotransferases (Phosphomutases), Immunology, Female, Neurology (clinical), Abnormality, medicine.symptom, Isoelectric Focusing, Congenital disorder of glycosylation, Functional Neurogenomics [DCN 2], Phosphomannomutase
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d77c2f3eea6cbc95eea8cc945eda7834Test
https://pubmed.ncbi.nlm.nih.gov/17694350Test
