نتائج البحث - "Glycostation disorders [IGMD 4]"

1

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

2

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

3

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

4

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

5

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

6

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

7

Autosomal recessive cutis laxa syndrome revisited

المؤلفون: Eva Morava, Dirk J. Lefeber, Maïlys Guillard, Ron A. Wevers

المصدر: European Journal of Human Genetics, 17, 1099-110
European Journal of Human Genetics, 17, 9, pp. 1099-110

مصطلحات موضوعية: Genetics, Systemic disease, Mutation, Energy and redox metabolism [NCMLS 4], Glycostation disorders [IGMD 4], Biology, medicine.disease, medicine.disease_cause, Gerodermia osteodysplastica, Fibulin, medicine, biology.protein, De Barsy syndrome, Functional Neurogenomics [DCN 2], Elastin, Genetics (clinical), Wrinkly skin syndrome, Cutis laxa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee90da14bc0aff8ac2566392f7c655a4Test
https://hdl.handle.net/2066/80393Test

8

Muscle 3243A -> G mutation load and capacity of the mitochondrial energy-generating system

المؤلفون: Bart W. Smits, Baziel G. M. van Engelen, Rob C.A. Sengers, Jan A.M. Smeitink, Marjo S. van der Knaap, Marloes H. Siers, Richard J. Rodenburg, Frans J.M. Trijbels, Francjan J. van Spronsen, Liesbeth T. Wintjes, Markus Schuelke, Barbara Lucke, Eva Morava, Henk J. ter Laak, Antoon J.M. Janssen, Lambert P. van den Heuvel, Frans A. Hol

المساهمون: Pediatric surgery, Neuroscience Campus Amsterdam 2008, Other departments, Faculteit Medische Wetenschappen/UMCG, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Annals of Neurology, 63(4), 473-481. John Wiley and Sons Inc.
Annals of Neurology, 63, 473-81
Annals of neurology, 63(4), 473-481. John Wiley and Sons Inc.
Janssen, A J M, Schuelke, M, Smeitink, J A M, Trijbels, F J M, Sengers, R C A, Lucke, B, Wintjes, L T M, Morava, E, van Engelen, B G M, Smits, B W, Hol, F A, Siers, M H, Ter Laak, H, van der Knaap, M S, van Spronsen, F J, Rodenburg, R J T & van den Heuvel, L P 2008, ' Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system ', Annals of Neurology, vol. 63, no. 4, pp. 473-481 . https://doi.org/10.1002/ana.21328Test
Annals of Neurology, 63(4), 473-481. Wiley
Annals of Neurology, 63, 4, pp. 473-81

مصطلحات موضوعية: Male, Adenosine, genetic structures, Respiratory chain, Mitochondrion, medicine.disease_cause, chemistry.chemical_compound, Mitochondrial myopathy, OXIDATIVE-PHOSPHORYLATION, Perception and Action [DCN 1], MELAS Syndrome, Child, LACTIC-ACIDOSIS, Human Movement & Fatigue [NCEBP 10], Mutation, Middle Aged, Mitochondrial medicine [IGMD 8], Neurology, Biochemistry, Child, Preschool, Lactic acidosis, SKELETAL-MUSCLE, Female, Functional Neurogenomics [DCN 2], psychological phenomena and processes, Adult, Mitochondrial DNA, Guanine, Energy and redox metabolism [NCMLS 4], Adolescent, Oxidative phosphorylation, Biology, DNA, Mitochondrial, behavioral disciplines and activities, COMPLEX-I, TRNA(LEU(UUR)) MUTATION, Genomic disorders and inherited multi-system disorders [IGMD 3], Electron Transport, Translational research [ONCOL 3], medicine, Humans, Muscle, Skeletal, A3243G POINT MUTATION, CLINICAL-FEATURES, STROKE-LIKE EPISODES, Infant, DELAYED DIAGNOSIS, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], TRANSFER RNALEU(UUR) GENE, Mitochondria, Muscle, Genetic defects of metabolism [UMCN 5.1], chemistry, nervous system, Neurology (clinical), Cellular energy metabolism [UMCN 5.3], Energy Metabolism, Adenosine triphosphate

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7309e350811f28f7884ed308e7f876feTest
https://hdl.handle.net/11370/e6d330f9-2287-4630-80cc-c24222097463Test

9

Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome

المؤلفون: Ernie M.H.F. Bongers, Lambert P. van den Heuvel, L.T.L. Sie, Wolfram Kress, Richard J. Rodenburg, Han G. Brunner, Eva Morava

المصدر: Clinical Dysmorphology, 16, 131-4
Clinical Dysmorphology, 16, 2, pp. 131-4

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Energy and redox metabolism [NCMLS 4], Genetics and epigenetic pathways of disease [NCMLS 6], Pathology and Forensic Medicine, Genomic disorders and inherited multi-system disorders [IGMD 3], Atrophy, Translational research [ONCOL 3], Mitochondrial Encephalomyopathies, Internal medicine, Humans, Medicine, Genetics (clinical), Renal disorder [IGMD 9], Genome, Human, business.industry, Infant, Nucleic Acid Hybridization, Tall Stature, Syndrome, General Medicine, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Body Height, Optic Atrophy, Mitochondrial medicine [IGMD 8], Endocrinology, Genetic defects of metabolism [UMCN 5.1], Child, Preschool, Karyotyping, Pediatrics, Perinatology and Child Health, Anatomy, Cellular energy metabolism [UMCN 5.3], business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9188307b84d57014c2f714e0baf3b86bTest
https://doi.org/10.1097/mcd.0b013e328014715eTest

10

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

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