نتائج البحث - "Glycostation disorders [IGMD 4]"

1

Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

المؤلفون: Björn Fischer, Aikaterini Dimopoulou, Uwe Kornak, Eva Morava, Maïlys Guillard, Dirk J. Lefeber, Ron A. Wevers

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1792, 903-14
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1792, 9, pp. 903-14

مصطلحات موضوعية: Models, Molecular, Vacuolar Proton-Translocating ATPases, Glycosylation, Energy and redox metabolism [NCMLS 4], Occipital horn syndrome, OMIM 219200, V-ATPase, Genes, Recessive, Biology, Cutis Laxa, 03 medical and health sciences, chemistry.chemical_compound, Mice, 0302 clinical medicine, Congenital Disorders of Glycosylation, Apolipoprotein C III, medicine, Animals, Humans, Molecular Biology, Gene, 030304 developmental biology, Genetics, 0303 health sciences, Apolipoprotein C-III, Cell Membrane, Transferrin, Glycostation disorders [IGMD 4], medicine.disease, Phenotype, 3. Good health, Protein Subunits, Proton-Translocating ATPases, chemistry, Molecular Medicine, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Cutis laxa, Subcellular Fractions

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c81bb80275980e7ddd9dc08e12b9f6caTest
https://doi.org/10.1016/j.bbadis.2008.12.009Test

2

Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry

المؤلفون: Eva Morava, Jolein Gloerich, Maïlys Guillard, Dirk J. Lefeber, Hans J. C. T. Wessels, Ron A. Wevers

المصدر: Carbohydrate Research, 344, 1550-7
Carbohydrate Research, 344, 12, pp. 1550-7

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52f73776c4cffbee8292788aa7cc9b40Test
https://hdl.handle.net/2066/80369Test

3

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients

المؤلفون: Ewa Pronicka, Maciej Adamowicz, Liesbeth Keldermans, Felix Sánchez-Valverde, Ron A. Wevers, A Chabás, Gert Matthijs, Els Schollen, Paz Briones, François Foulquier

المصدر: Molecular Genetics and Metabolism, 90, 408-13
Molecular Genetics and Metabolism, 90, 4, pp. 408-13

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec45e582e550bd641be4656031333d73Test
https://hdl.handle.net/2066/53272Test

4

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria

المؤلفون: Suzan Wopereis, Louise Royle, Bridget Wilcken, Umi Marshida Abd Hamid, Raymond A. Dwek, Pauline M. Rudd, Eva Morava, Jules G. Leroy, Karin Huijben, Ron A. Wevers, Alison J. Critchley, Dirk Lefeber, Aart J. Lagerwerf

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1762, 6, pp. 598-607
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1762, 598-607

مصطلحات موضوعية: Sialuria, Glycosylation, Energy and redox metabolism [NCMLS 4], Hypersialylation, Core I O-glycans, N-glycosylation, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Polysaccharides, medicine, Perception and Action [DCN 1], Humans, Protein Isoforms, Apolipoproteins C, Molecular Biology, Chromatography, High Pressure Liquid, Glycoproteins, chemistry.chemical_classification, Apolipoprotein C-III, Nucleotides, Sialic Acid Storage Disease, Transferrin, O-glycosylation, Sialuria OMIM 269921, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Blood proteins, N-Acetylneuraminic Acid, Neuromuscular development and genetic disorders [UMCN 3.1], Sialic acid, carbohydrates (lipids), Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Genetic defects of metabolism [UMCN 5.1], Inborn error of metabolism, Molecular Medicine, Isoelectric Focusing, Glycoprotein, N-Acetylneuraminic acid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6496a4d0a2f664f97fc1af0f93a7cdaTest

5

High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome

المؤلفون: Michèl A.A.P. Willemsen, Ron A. Wevers, Eva Morava, Suzan Wopereis, H.J. ter Laak, Dirk Lefeber, Johannes R.M. Cruysberg

المصدر: European Journal of Ophthalmology, 16, 190-4
European Journal of Ophthalmology, 16, 1, pp. 190-4

مصطلحات موضوعية: medicine.medical_specialty, Glycosylation, Energy and redox metabolism [NCMLS 4], Neuroinformatics [DCN 3], Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Muscular Diseases, Polysaccharides, Internal medicine, Perception and Action [DCN 1], medicine, Dystroglycan, Myopia, Neurosensory disorders [UMCN 3.3], Humans, Abnormalities, Multiple, Myopathy, Cerebral Cortex, Muscle biopsy, medicine.diagnostic_test, biology, Pachygyria, Muscle weakness, Infant, General Medicine, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Congenital myopathy, Magnetic Resonance Imaging, carbohydrates (lipids), Ophthalmology, Mitochondrial medicine [IGMD 8], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Growth and differentiation [NCMLS 3], Neuromuscular Development and genetic Disorders [UMCN 3.1], Mutation, 030221 ophthalmology & optometry, biology.protein, Congenital muscular dystrophy, Female, medicine.symptom, 030217 neurology & neurosurgery, Cutis laxa, Carbohydrate Metabolism, Inborn Errors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c9263549463105d052c0262778399aaTest
https://hdl.handle.net/2066/49372Test

6

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

المؤلفون: Jaak Jaeken, Jaap A. Bakker, Richard Steet, H. J. Sijstermans, L. J. M. Spaapen, S. B. van der Meer, Ron A. Wevers

المصدر: Journal of Inherited Metabolic Disease, 28, 5, pp. 707-14
Journal of Inherited Metabolic Disease, 28, 707-14

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, Energy and redox metabolism [NCMLS 4], Apolipoprotein B, Golgi Apparatus, Neuroinformatics [DCN 3], Biology, chemistry.chemical_compound, symbols.namesake, Congenital Disorders of Glycosylation, N-linked glycosylation, Internal medicine, Leukocytes, Perception and Action [DCN 1], Genetics, medicine, Humans, Protein Isoforms, Apolipoproteins C, Genetics (clinical), Glycoproteins, Family Health, chemistry.chemical_classification, Apolipoprotein C-III, Isoelectric focusing, Siblings, Conserved oligomeric Golgi complex, Transferrin, Fibroblasts, Glycostation disorders [IGMD 4], Golgi apparatus, N-Acetylneuraminic Acid, Neuromuscular development and genetic disorders [UMCN 3.1], Sialic acid, Endocrinology, Liver, Genetic defects of metabolism [UMCN 5.1], chemistry, biology.protein, symbols, Female, Isoelectric Focusing, Lysosomes, Glycoprotein, Functional Neurogenomics [DCN 2], Carbohydrate Metabolism, Inborn Errors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96af222bfb63c8e8448a8c05e0262e79Test
https://doi.org/10.1007/s10545-005-0015-zTest

7

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics

المؤلفون: Bryan Winchester, Suzan Wopereis, Ron A. Wevers, Stephanie Grunewald, Paul Coucke, Peter E. Clayton, Karin Huijben, Eva Morava, Philippa B. Mills

المصدر: Biochimica et Biophysica Acta. Molecular Basis of Disease, 1741, 1-2, pp. 156-64
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1741, 156-64

مصطلحات موضوعية: Glycosylation, N-glycosylation, Neuroinformatics [DCN 3], Cutis Laxa, Mass Spectrometry, Extracellular matrix, Consanguinity, chemistry.chemical_compound, 0302 clinical medicine, N-linked glycosylation, Perception and Action [DCN 1], O-glycosylation, Extracellular Matrix Proteins, 0303 health sciences, Transferrin, Pedigree, 3. Good health, Mitochondrial medicine [IGMD 8], Glycan biosynthesis defect, Biochemistry, Child, Preschool, FBLN5, Molecular Medicine, Carbohydrate Metabolism, Inborn Errors, Energy and redox metabolism [NCMLS 4], Genes, Recessive, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, 03 medical and health sciences, Polysaccharides, medicine, Humans, Apolipoproteins C, Molecular Biology, 030304 developmental biology, Congenital disorder of glycosylation, Infant, Glycostation disorders [IGMD 4], medicine.disease, Molecular biology, Neuromuscular development and genetic disorders [UMCN 3.1], Sialic acid, carbohydrates (lipids), Genetic defects of metabolism [UMCN 5.1], chemistry, Isoelectric Focusing, Nervous System Diseases, 030217 neurology & neurosurgery, Cutis laxa