نتائج البحث - "Glycostation disorders [IGMD 4]"

1

The Impact of Delayed Storage on the Measured Proteome and Metabolome of Human Cerebrospinal Fluid

المؤلفون: Therese Rosenling, Alain J. van Gool, Sybren S. Wijmenga, Rob J. Vreeken, Bas Muilwijk, Adrie Dane, Theo M. Luider, Lutgarde M. C. Buydens, Peter Horvatovich, Shanna Shi, Christin Christin, Agnieszka Smolinska, Marcel P. Stoop, Thomas Hankemeier, Frank Suits, Rainer Bischoff, Leon Coulier

المساهمون: Neurology, Epidemiology, Molecular Genetics, Analytical Biochemistry, Groningen Research Institute of Pharmacy, Medicinal Chemistry and Bioanalysis (MCB)

المصدر: Clinical Chemistry, 57(12), 1703-1711. American Association for Clinical Chemistry Inc.
Clinical Chemistry, 57, 1703-1711
Clinical Chemistry, 57, 12, pp. 1703-11
Clinical Chemistry, 57(12), 1703-1711. AMER ASSOC CLINICAL CHEMISTRY
Clinical Chemistry, 57, 12, pp. 1703-1711
Clinical Chemistry, 57, 1703-11
Clinical Chemistry, 12, 57, 1703-1711

مصطلحات موضوعية: Chromatography, Gas, Magnetic Resonance Spectroscopy, Time Factors, Proteome, Metabolite, BLOOD-SERUM, Clinical Biochemistry, CSF, Mass Spectrometry, Specimen Handling, Analytical Chemistry, chemistry.chemical_compound, Blood serum, Metabolomics, SDG 3 - Good Health and Well-being, EELS - Earth, Environmental and Life Sciences TNO Bedrijven, CYSTATIN-C, Metabolome, Humans, QS - Quality & Safety AR - Analytical Research, Cerebrospinal Fluid, Nutrition, Chromatography, STABILITY, Chemistry, Biochemistry (medical), Selected reaction monitoring, Life Triskelion BV, MULTIPLE-SCLEROSIS, MASS-SPECTROMETRY, Glycostation disorders [IGMD 4], Ascorbic acid, BIOMARKER DISCOVERY, Biochemistry, ASCORBIC-ACID, NMR-SPECTROSCOPY, Sample collection, Biophysical Chemistry, LIQUID-CHROMATOGRAPHY, Functional Neurogenomics [DCN 2], Healthy Living, Chromatography, Liquid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45f237008644d12dc3fd3a14f8fa34deTest
https://doi.org/10.1373/clinchem.2011.167601Test

2

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism

المساهمون: Reproductive Origins of Adult Health and Disease (ROAHD)

المصدر: Brain, 133, 11, pp. 3210-20
Brain, 133, 3210-3220. Oxford University Press
Brain, 133, 3210-20

مصطلحات موضوعية: Male, Pathology, Glycosylation, Polyprenol reductase, Genetics and epigenetic pathways of disease [NCMLS 6], Eye Diseases, Neuroinformatics [DCN 3], CHARGE syndrome, chemistry.chemical_compound, Dolichols, dolichol metabolism, Child, Cerebellar hypoplasia, JOUBERT-SYNDROME, SRD5A3-CDG, Homozygote, polyprenol reductase, Syndrome, Hypoplasia, CDG type Iq, cataract, CHARGE-SYNDROME, Child, Preschool, coloboma, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Functional Neurogenomics [DCN 2], medicine.medical_specialty, CONGENITAL DISORDERS, Biology, Joubert syndrome, Genomic disorders and inherited multi-system disorders [IGMD 3], Abnormal glycosylation, Dolichol, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Cerebellar Diseases, Internal medicine, medicine, Humans, BIOSYNTHESIS, SPECTRUM, Cerebellar ataxia, MUTATIONS, vermis hypoplasia, Infant, Membrane Proteins, Original Articles, Glycostation disorders [IGMD 4], Lipid Metabolism, medicine.disease, GENE, carbohydrates (lipids), glaucoma, Endocrinology, chemistry, Mutation, SRD5A3, CDG, Neurology (clinical), AUTOSOMAL RECESSIVE SYNDROME, MENTAL-RETARDATION, congenital disorders of glycosylation, Microsatellite Repeats

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bea1dc7bce4c935f88e51dacb8481f2dTest
https://doi.org/10.1093/brain/awq261Test

3

Mucopolysaccharidosis Type IIIA: Clinical Spectrum and Genotype-Phenotype Correlations

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. 876-87

مصطلحات 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

4

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype

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. 968-72

مصطلحات 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

5

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

المؤلفون: J. Hayek, Monique J. B. M. Veendrick-Meekes, Maria Tassini, Raffaella Zannolli, Maaike de Vries, Appie Bilos, Gianni Valensin, Ron A. Wevers, Eva Morava, Udo F. H. Engelke, Leo A. J. Kluijtmans, Antonio Vivi, Wim Brussel, Sabrina Buoni, Berry Kremer, Gajja S. Salomons

المساهمون: Internal Medicine Specializations, Clinical chemistry, Other Research

المصدر: Engelke, U F H, Tassini, M, Hayek, J, de Vries, M, Bilos, A, Vivi, A, Valensin, G, Buoni, S, Zannolli, R, Brussel, W, Kremer, B, Salomons, G S, Veendrick-Meekes, M J B M, Kluijtmans, L A J, Morava, E & Wevers, R A 2009, ' Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids ', NMR in Biomedicine, vol. 22, no. 5, pp. 538-544 . https://doi.org/10.1002/nbm.1367Test
NMR in Biomedicine, 22, 538-44
NMR in Biomedicine, 22(5), 538-544. John Wiley and Sons Ltd
NMR in Biomedicine, 22, 5, pp. 538-44

مصطلحات موضوعية: Adult, Male, Magnetic Resonance Spectroscopy, creatine biosynthesis, Energy and redox metabolism [NCMLS 4], Glycine, Membrane transport and intracellular motility [NCMLS 5], L-arginine, in vitro (1)H NMR spectroscopy, Urine, Creatine, guanidinoacetate methyltransferase, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Cerebrospinal fluid, Reference Values, guanidino-acetic acid, glycine amidinotransferase, Humans, Radiology, Nuclear Medicine and imaging, Child, Spectroscopy, Creatinine, Chromatography, creatinine, Infant, Nuclear magnetic resonance spectroscopy, Hydrogen-Ion Concentration, Glycostation disorders [IGMD 4], Body Fluids, Guanidinoacetate N-methyltransferase, NMR spectra database, creatine, chemistry, Child, Preschool, Proton NMR, Molecular Medicine, Female, Guanidinoacetate N-Methyltransferase, Protons, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ad2489fa250e140ba7b4aa57fe2193Test
https://doi.org/10.1002/nbm.1367Test

6

Free sialic acid storage disease without sialuria

المؤلفون: Ron A. Wevers, Christine R. Kaneski, Udo F. H. Engelke, Jiahuan Ding, Julie Barritault, Nathan McNeill, Raphael Schiffmann, Fanny Mochel, Marjan Huizing, Mones Abu-Asab, David R. Adams, François Seguin, Bingzhi Yang, Frans W. Verheijen, William S. Benko, Jerry N. Thompson, Maria Tsokos

المساهمون: Clinical Genetics

المصدر: Annals of Neurology, 65, 6, pp. 753-7
Annals of Neurology, 65, 753-7
Annals of Neurology, 65(6), 753-757. John Wiley & Sons Inc.

مصطلحات موضوعية: Sialuria, medicine.medical_specialty, Adolescent, Energy and redox metabolism [NCMLS 4], Organic anion transporter 1, Organic Anion Transporters, Urine, medicine.disease_cause, Article, Diagnosis, Differential, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, chemistry.chemical_compound, Cerebrospinal fluid, Internal medicine, medicine, Humans, Child, Nuclear Magnetic Resonance, Biomolecular, Mutation, Symporters, biology, Sialic Acid Storage Disease, Glycostation disorders [IGMD 4], medicine.disease, N-Acetylneuraminic Acid, Sialic acid, Hereditary Central Nervous System Demyelinating Diseases, Endocrinology, Neurology, chemistry, biology.protein, Neurology (clinical), Functional Neurogenomics [DCN 2], N-Acetylneuraminic acid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ec13ae7461e98be4f002f7c42730d09Test
https://doi.org/10.1002/ana.21624Test

7

An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1)

المؤلفون: Barbara Franke, Mascha M.V.A.P. Schijvenaars, Martin den Heijer, Hans Scheffer, Marieke J H Coenen, Sita H. Vermeulen, Régine P.M. Steegers-Theunissen, Henk J. Blom

المساهمون: Laboratory Medicine, ICaR - Ischemia and repair

المصدر: Franke, B, Vermeulen, S H, Steegers-Theunissen, R P, Coenen, M J, Schijvenaars, M M V A, Scheffer, H, den Heijer, M & Blom, H J 2009, ' An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1) ', Birth Defects Research Part A-Clinical and Molecular Teratology, vol. 85, no. 3, pp. 216-226 . https://doi.org/10.1002/bdra.20556Test
Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 3, pp. 216-26
Birth Defects Research Part A-Clinical and Molecular Teratology, 85(3), 216-226. Wiley-Liss Inc.
Birth Defects Research Part A-Clinical and Molecular Teratology, 85, 216-26

مصطلحات موضوعية: Embryology, Candidate gene, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Receptors, Cell Surface, Single-nucleotide polymorphism, Neuroinformatics [DCN 3], Biology, RFC1, Cobalamin, Genomic disorders and inherited multi-system disorders [IGMD 3], Molecular epidemiology [NCEBP 1], chemistry.chemical_compound, Folic Acid, Translational research [ONCOL 3], Perception and Action [DCN 1], medicine, Humans, DNA (Cytosine-5-)-Methyltransferases, Cyanocobalamin, Child, Spinal Dysraphism, Genetics, Polymorphism, Genetic, Spina bifida, Hormonal regulation [IGMD 6], Neural tube, General Medicine, Glycostation disorders [IGMD 4], Cubilin, medicine.disease, nervous system diseases, medicine.anatomical_structure, chemistry, Pediatrics, Perinatology and Child Health, Female, Functional Neurogenomics [DCN 2], Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15811c07f4242b2de0dd1e3a1b4f9484Test
https://doi.org/10.1002/bdra.20556Test

8

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