نتائج البحث - "Glycostation disorders [IGMD 4]"

51

Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

المؤلفون: Andrea Superti-Furga, Susanne Schweitzer-Krantz, Heike Olbrich, Udo F. H. Engelke, Verena Mohr, Ron A. Wevers, Manfred Fliegauf, Ralf Moebus, Heymut Omran, Andreas Kispert, Judit Horvath, Niki T. Loges, Jörn Oliver Sass, Polly Weiler

المصدر: American Journal of Human Genetics, 78, 401-9
American Journal of Human Genetics, 78, 3, pp. 401-9

مصطلحات موضوعية: medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Molecular Sequence Data, Neuroinformatics [DCN 3], Biology, medicine.disease_cause, Amidohydrolases, chemistry.chemical_compound, Mice, Valine, Internal medicine, Perception and Action [DCN 1], medicine, Genetics, Missense mutation, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Amino Acids, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Conserved Sequence, Aminoacylase, Mutation, Methionine, Biotinidase deficiency, Acetylation, Articles, Glycostation disorders [IGMD 4], medicine.disease, Blotting, Northern, Neuromuscular development and genetic disorders [UMCN 3.1], Rats, Endocrinology, Genetic defects of metabolism [UMCN 5.1], chemistry, Genes, Inborn error of metabolism, ACY1, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::346fc350282ec1c3ff87ca617dfdc28aTest

52

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

53

Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome

المؤلفون: Eva Morava, Rodenburg, R., Hol, F., Linda De Meirleir, Sara Seneca, Busch, R., Den Heuvel, L., Jan Smeitink

المساهمون: Department of Embryology and Genetics, Pediatrics, Vrije Universiteit Brussel

المصدر: American Journal of Medical Genetics. Part A, 140, 7, pp. 752-6
Vrije Universiteit Brussel
American Journal of Medical Genetics. Part A, 140, 752-6

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial medicine [IGMD 8], Energy and redox metabolism [NCMLS 4], Genetic defects of metabolism [UMCN 5.1], Translational research [ONCOL 3], Glycostation disorders [IGMD 4], Brooks-Wisniewski-Brown syndrome, Cellular energy metabolism [UMCN 5.3]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bd45ce198a5cda6750f8f2d3d5787219Test
https://hdl.handle.net/2066/50522Test

54

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

المؤلفون: Ronald J.A. Wanders, Berry Kremer, Ference J. Loupatty, Udo F. H. Engelke, Marinette van der Graaf, Erik van den Bergh, Eva Morava, Leo A. J. Kluijtmans, Sandra Loss, Detlef Moskau, Ron A. Wevers

المصدر: NMR in Biomedicine, 19, 2, pp. 271-8
NMR in Biomedicine, 19, 271-8

مصطلحات موضوعية: medicine.medical_specialty, Magnetic Resonance Spectroscopy, Energy and redox metabolism [NCMLS 4], Urine, Neuroinformatics [DCN 3], Meglutol, Genomic disorders and inherited multi-system disorders [IGMD 3], Glutarates, Leukoencephalopathy, White matter, Cerebrospinal fluid, Leucine, In vivo, Internal medicine, Perception and Action [DCN 1], Valerates, medicine, Humans, Radiology, Nuclear Medicine and imaging, Amino Acid Metabolism, Inborn Errors, Spectroscopy, Chemistry, Brain, Nuclear magnetic resonance spectroscopy, Glycostation disorders [IGMD 4], Middle Aged, 3-Methylglutaconic Aciduria, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Mitochondrial medicine [IGMD 8], Endocrinology, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Molecular Medicine, Female, Functional Imaging [UMCN 1.1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e492c54a7c2c29b3b56ecc75caa7afa5Test
https://doi.org/10.1002/nbm.1018Test

55

Hypoacetylaspartia: clinical and biochemical follow-up of a patient

المؤلفون: Burlina, Ap, Schmitt, B, Engelke, U, Wevers, Ra, Burlina, A, Boltshauser, E

المصدر: Advances in Experimental Medicine and Biology, 576, 283-7
Advances in Experimental Medicine and Biology, 576, pp. 283-7

مصطلحات موضوعية: Energy and redox metabolism [NCMLS 4], Genetic defects of metabolism [UMCN 5.1], Perception and Action [DCN 1], Neuroinformatics [DCN 3], Glycostation disorders [IGMD 4], Neuromuscular development and genetic disorders [UMCN 3.1]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b12d99abb0b9b216a735a90dd020c203Test
https://hdl.handle.net/2066/51389Test

56

Serial Isoelectric Focusing as an Effective and Economic Way to Obtain Maximal Resolution and High-Throughput in 2D-Based Comparative Proteomics of Scarce Samples: Proof-of-Principle

المؤلفون: Lambert P. van den Heuvel, Murtada H Farhoud, Baziel G.M. van Engelen, Jan A.M. Smeitink, Hans J. C. T. Wessels, Ron A. Wevers

المصدر: Journal of Proteome Research, 4, 2364-8
Journal of Proteome Research, 4, 6, pp. 2364-8

مصطلحات موضوعية: Proteomics, Proteome, Energy and redox metabolism [NCMLS 4], Resolution (mass spectrometry), Computer science, Sample (material), STRIPS, Neuroinformatics [DCN 3], Biochemistry, law.invention, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], law, Perception and Action [DCN 1], Humans, Narrow range, Electrophoresis, Gel, Two-Dimensional, Isoelectric Point, Throughput (business), Human Movement & Fatigue [NCEBP 10], Chromatography, Isoelectric focusing, Myocardium, Temperature, Proteins, General Chemistry, Hydrogen-Ion Concentration, Glycostation disorders [IGMD 4], Neuromuscular development and genetic disorders [UMCN 3.1], Mitochondria, Mitochondrial medicine [IGMD 8], Proof of concept, Indicators and Reagents, Isoelectric Focusing, Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2], Algorithm

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4857eb3a84fa69eaac48efa76da57502Test
https://doi.org/10.1021/pr050231aTest

57

Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency

المؤلفون: H. Zweers van Essen, Saskia B. Wortmann, Eva Morava, R. Liebrand van Sambeek, O. P. van Diggelen, Ron A. Wevers

المساهمون: Clinical Genetics

المصدر: Journal of Inherited Metabolic Disease, 28, 5, pp. 703-6
Journal of Inherited Metabolic Disease, 28, 703-6
Journal of Inherited Metabolic Disease, 28(5), 703-706. Springer Netherlands

مصطلحات موضوعية: Male, Heterozygote, medicine.medical_specialty, Erythrocytes, Energy and redox metabolism [NCMLS 4], Phosphorylase Kinase, Butanols, Urinary system, Oligosaccharides, 1-Propanol, Urine, Neuroinformatics [DCN 3], Biology, Biochemistry, High cholesterol, Genomic disorders and inherited multi-system disorders [IGMD 3], Excretion, Hemoglobins, chemistry.chemical_compound, Glucosides, Internal medicine, Perception and Action [DCN 1], Genetics, medicine, Humans, Glycogen storage disease, Phosphorylase kinase, Genetics (clinical), Family Health, Triglyceride, Glycostation disorders [IGMD 4], Glycogen Storage Disease, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Quality of Care [EBP 4], Mitochondrial medicine [IGMD 8], Cholesterol, Endocrinology, Genetic defects of metabolism [UMCN 5.1], chemistry, Female, lipids (amino acids, peptides, and proteins), Chromatography, Thin Layer, Growth delay, Functional Neurogenomics [DCN 2], Blood Chemical Analysis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d847a4f35d29dae3f9f1d5f3de7fb14Test
https://doi.org/10.1007/s10545-005-0095-9Test

58

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

59

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

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8262e6f8abfb00be06c4f93bc93a1181Test
https://doi.org/10.1016/j.bbadis.2004.11.009Test

60

Mitochondrial dysfunction in a patient with Joubert syndrome

المؤلفون: H.Y. Kroes, Eva Morava, L.P.W.J. van den Heuvel, A. Dinopoulos, J.H.L.M. van Bokhoven, Jan A.M. Smeitink, Richard J. Rodenburg

المصدر: Neuropediatrics, 36, 214-7
Neuropediatrics, 36, 3, pp. 214-7

مصطلحات موضوعية: Pyruvate decarboxylation, medicine.medical_specialty, Pathology, Mitochondrial Diseases, Ataxia, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Mitochondrial disease, Joubert syndrome, Marfan Syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Translational research [ONCOL 3], Cerebellum, Internal medicine, medicine, Neurosensory disorders [UMCN 3.3], Humans, Abnormalities, Multiple, Cerebellar hypoplasia, Psychomotor retardation, business.industry, Infant, Newborn, Facies, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Hypotonia, eye diseases, Pyruvate dehydrogenase deficiency, Mitochondrial medicine [IGMD 8], Endocrinology, Pediatrics, Perinatology and Child Health, Muscle Hypotonia, Female, Neurology (clinical), medicine.symptom, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2], Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1eb18ecc476d8d18fad572bab71820fTest
https://hdl.handle.net/2066/48821Test

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