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

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

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

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

المؤلفون: Frans J.M. Trijbels, Liesbeth T. Wintjes, Wim Ruitenbeek, Antoon J.M. Janssen, Lambert P. van den Heuvel, Richard J. Rodenburg, Rob C.A. Sengers, Jan A.M. Smeitink, Eva Morava, Baziel G.M. van Engelen

المصدر: Clinical Chemistry, 52, 860-71
Clinical Chemistry, 52, 5, pp. 860-71

مصطلحات موضوعية: Adult, Male, Pyruvate decarboxylation, Mitochondrial Diseases, Pyruvate dehydrogenase kinase, Energy and redox metabolism [NCMLS 4], Adolescent, Biopsy, Clinical Biochemistry, Malates, Succinic Acid, Pyruvate Dehydrogenase Complex, Pyruvate dehydrogenase phosphatase, Biology, Oxidative Phosphorylation, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Adenosine Triphosphate, Translational research [ONCOL 3], Carnitine, Pyruvic Acid, Humans, Carbon Radioisotopes, Dihydrolipoyl transacetylase, Child, Muscle, Skeletal, Human Movement & Fatigue [NCEBP 10], Biochemistry (medical), Glycostation disorders [IGMD 4], Pyruvate dehydrogenase complex, Neuromuscular development and genetic disorders [UMCN 3.1], Malonates, Mitochondria, Pyruvate carboxylase, Citric acid cycle, Mitochondrial medicine [IGMD 8], chemistry, Biochemistry, Child, Preschool, Female, Pyruvic acid, Cellular energy metabolism [UMCN 5.3], Energy Metabolism, Functional Neurogenomics [DCN 2], Mitochondrial ADP, ATP Translocases, Oxidation-Reduction

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f25756668e3dc458d21c7e61b2642028Test
https://doi.org/10.1373/clinchem.2005.062414Test

المؤلفون: Paul M. Parizel, Patrick Cras, Philippe G. Jorens, Katrien Smets, Hendrik E. Demey, Ron A. Wevers, Kris Jadoul, Marcel M. Verbeek

المصدر: Neuroradiology
Neuroradiology, 47, 10, pp. 758-64
Neuroradiology, 47, 758-64

مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Encephalomyelitis, Contrast Media, Neuroinformatics [DCN 3], medicine.disease_cause, Methylprednisolone, Central nervous system disease, Cerebrospinal fluid, Meningoencephalitis, Streptococcus pneumoniae, medicine, Perception and Action [DCN 1], Humans, Radiology, Nuclear Medicine and imaging, Alzheimer Centre [NCEBP 11], Brain abscess, Glucocorticoids, Aged, business.industry, Middle Aged, Glycostation disorders [IGMD 4], medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Diffusion Magnetic Resonance Imaging, Genetic defects of metabolism [UMCN 5.1], Female, Neurology (clinical), Cardiology and Cardiovascular Medicine, business, Tomography, X-Ray Computed, Meningitis, Functional Neurogenomics [DCN 2], Encephalitis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eed65763879186858b5fb5d50412561Test
https://doi.org/10.1007/s00234-005-1423-3Test

المؤلفون: George J G Ruijter, Friederike Bürger, D. Eckert, Feikje van den Bos-Terpstra, Martinus F. Niermeijer, Fatih Süheyl Ezgü, Ron A. Wevers, Peter Elfferich, Ayşegül Tokatlı, Ben J. H. M. Poorthuis, Marja W. Wessels, Dicky J. Halley, Emil Simeonov, Otto P. van Diggelen, Hugues Puissant, Ad N. Bosschaart, Aida M. Bertoli-Avella, Heymut Omran, Marlies J. Valstar, Roxana Kariminejad, Mirella Filocamo, Barbara Czartoryska, Renske Olmer, Patrick J. Willems, Sanne Neijs, Bianca M. de Graaf

المساهمون: Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry, Pediatrics, Clinical Genetics, Pediatric Surgery

المصدر: Human mutation, 31(5), E1348-E1360. Wiley-Liss Inc.
Human Mutation, 31(5), E1348-+. Wiley-Liss Inc.
Human Mutation, 31, 5, pp. E1348-60
Human Mutation, 31, E1348-60

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Nonsense mutation, Neuroinformatics [DCN 3], Biology, Frameshift mutation, Mucopolysaccharidosis III, Young Adult, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Sanfilippo syndrome, Mucopolysaccharidosis Type IIID, Glycostation disorders [IGMD 4], N-acetylglucosamine-6-sulfatase, medicine.disease, Phenotype, Child, Preschool, Mutation, Mutation testing, Female, Sulfatases, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24a772b434f131f7b8dbd45df3900cf5Test
https://avesis.gazi.edu.tr/publication/details/0d92a8ef-88ff-4eac-920d-2c0f1624a7c4/oaiTest

المؤلفون: Christine Kaneski, Bart W. Smits, B. Kulkarni, Marie T. Vanier, Raphael Schiffmann, Jia-Huan Ding, Udo F. H. Engelke, Marjan Huizing, Alexis Brice, Frans W. Verheijen, David H. Adams, Adeline Vanderver, Alexandra Durr, Ron A. Wevers, Julie Barritault, Frédéric Sedel, François Seguin, F. Clot, B. Yang, Fanny Mochel

المساهمون: Clinical Genetics

المصدر: Brain, 132, 801-809. Oxford University Press
Brain, 132, Pt 3, pp. 801-9
Brain, 132, 801-9

مصطلحات موضوعية: Adult, Male, Cerebellum, Pathology, medicine.medical_specialty, Magnetic Resonance Spectroscopy, Adolescent, Cerebellar Ataxia, Energy and redox metabolism [NCMLS 4], Biology, Cohort Studies, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Cerebrospinal fluid, Perception and Action [DCN 1], medicine, Humans, Child, Cells, Cultured, Aged, Aged, 80 and over, Ganglioside, Cerebellar ataxia, Transferrin, Infant, Original Articles, Middle Aged, Glycostation disorders [IGMD 4], medicine.disease, Magnetic Resonance Imaging, N-Acetylneuraminic Acid, Sialic acid, medicine.anatomical_structure, Salla disease, chemistry, Child, Preschool, Female, Cerebellar atrophy, Neurology (clinical), Atrophy, medicine.symptom, Functional Neurogenomics [DCN 2], N-Acetylneuraminic acid

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08b7452d5e040cfbe12ef7ea31cff77Test
https://pure.eur.nl/en/publications/129ab6fb-ad79-4140-bec1-22067e0f6099Test

المؤلفون: Maciej Adamowicz, Ron A. Wevers, Hanna N. Wosik, Eva Morava, Maïlys Guillard, Dirk Lefeber, Johannes R.M. Cruysberg, Jolanta Sykut-Cegielska

المصدر: British Journal of Ophthalmology, 93, 3, pp. 350-4
British Journal of Ophthalmology, 93, 350-4

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Intraocular pressure, Pediatrics, congenital, hereditary, and neonatal diseases and abnormalities, Energy and redox metabolism [NCMLS 4], genetic structures, Vision Disorders, Glaucoma, Cataract, Genomic disorders and inherited multi-system disorders [IGMD 3], Cellular and Molecular Neuroscience, Congenital Disorders of Glycosylation, Epidemiology, Retinitis pigmentosa, medicine, Perception and Action [DCN 1], Humans, Eye Abnormalities, Prospective Studies, Age of Onset, Prospective cohort study, Child, business.industry, Glycostation disorders [IGMD 4], medicine.disease, Sensory Systems, eye diseases, Surgery, Posterior segment of eyeball, Strabismus, Ophthalmology, El Niño, Evaluation of complex medical interventions [NCEBP 2], Child, Preschool, Female, sense organs, Age of onset, business, Functional Neurogenomics [DCN 2], Retinitis Pigmentosa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e6d1af55cb6069c0c1c0aa157790f8Test
https://doi.org/10.1136/bjo.2008.145359Test

المؤلفون: Ronald J.A. Wanders, Wim N.P. Willemsen, Ron A. Wevers, Francis E. Hartog, Roel Nijland

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases

المصدر: Journal of Pediatric and Adolescent Gynecology, 22, 229-31
Journal of pediatric and adolescent gynecology, 22(4), 229-231. Elsevier USA
Journal of Pediatric and Adolescent Gynecology, 22, 4, pp. 229-31

مصطلحات موضوعية: Adult, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Population, Urine, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Polymorphism (computer science), Pregnancy, Internal medicine, medicine, Outpatient clinic, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Family history, Young adult, education, Mullerian Ducts, Netherlands, Gynecology, education.field_of_study, business.industry, Case-control study, Obstetrics and Gynecology, Galactose, General Medicine, Syndrome, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Human Reproduction [NCEBP 12], Endocrinology, Case-Control Studies, Pediatrics, Perinatology and Child Health, Female, business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e30cc093e665b87d1024e1eaede7901Test
http://hdl.handle.net/2066/80664Test