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: 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: Marjan Huizing, Rolph Pfundt, Athanasios Evangeliou, Jan A.M. Smeitink, David H. Adams, Bert B.A. de Vries, Meropi Tzoufi, Hans Scheffer, Eva Morava, Henk J. ter Laak, Evangelos Marinos, Alexandros Makis, Despina G. Contopoulos-Ioannidis, Richard A. Hess

المصدر: American Journal of Medical Genetics. Part A, 146A, 3100-3
American Journal of Medical Genetics. Part A, 146A, 23, pp. 3100-3

مصطلحات موضوعية: Platelet Storage Pool Deficiency, medicine.medical_specialty, Photophobia, Energy and redox metabolism [NCMLS 4], Adolescent, Platelet Storage Pool Deficiency/complications/*diagnosis/pathology, Rhabdomyolysis, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Recurrence, Internal medicine, Genetics, medicine, Perception and Action [DCN 1], Humans, Genetic Predisposition to Disease, Genetics (clinical), Pigmentation disorder, OCA2, Platelet storage pool deficiency, business.industry, Malignant hyperthermia, Malignant Hyperthermia/genetics, Rhabdomyolysis/complications/*diagnosis/pathology, Glycostation disorders [IGMD 4], medicine.disease, Oculocutaneous albinism, Dermatology, eye diseases, Neuromuscular development and genetic disorders [UMCN 3.1], Bleeding diathesis, Endocrinology, Mitochondrial medicine [IGMD 8], Phenotype, Genetic defects of metabolism [UMCN 5.1], Albinism, Oculocutaneous, Albinism, Albinism, Oculocutaneous/complications/*diagnosis/pathology, Female, medicine.symptom, business, Cellular energy metabolism [UMCN 5.3], Malignant Hyperthermia, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf; Print

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5ee645a279af12ff7e2c250324cd58bTest
http://olympias.lib.uoi.gr/jspui/handle/123456789/18742Test

المؤلفون: Dominique Campion, Erik A. Sistermans, Ron A. Wevers, Didier Hannequin, Lucie Guyant-Maréchal, Carole Girard, Aad Verrips, Pierre Vera, Fokje Zijlstra

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)

المصدر: Guyant-Maréchal, L, Verrips, A, Girard, C, Wevers, B A, Zijlstra, F, Sistermans, E, Vera, P, Campion, D & Hannequin, D 2005, ' Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype ', American Journal of Medical Genetics, Part A, vol. 139 A, no. 2, pp. 114-117 . https://doi.org/10.1002/ajmg.a.30797Test
American Journal of Medical Genetics, Part A, 139 A(2), 114-117. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 139, 114-7
American Journal of Medical Genetics. Part A, 139, 2, pp. 114-7

مصطلحات موضوعية: Male, medicine.medical_specialty, Cerebellum, Ataxia, Energy and redox metabolism [NCMLS 4], Neuroinformatics [DCN 3], Neuropsychological Tests, Compound heterozygosity, Cerebrotendinous Xanthomatosis, Genomic disorders and inherited multi-system disorders [IGMD 3], White matter, Internal medicine, CYP27A1, Perception and Action [DCN 1], Genetics, medicine, Neurosensory disorders [UMCN 3.3], Humans, Dementia, Genetics (clinical), Tomography, Emission-Computed, Single-Photon, business.industry, Mental Disorders, Xanthomatosis, Cerebrotendinous, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Phenotype, Endocrinology, medicine.anatomical_structure, Genetic defects of metabolism [UMCN 5.1], Cerebellar atrophy, medicine.symptom, business, Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5041bb7b6a3581b867ae0c509f4646aTest
https://research.vumc.nl/en/publications/a7243574-6f0c-4ed1-826b-adf4f8243fb3Test

المؤلفون: Ben J. H. M. Poorthuis, Renske Olmer, Frans W. Verheijen, Ron A. Wevers, Frits A. Wijburg, Dicky J. Halley, Hennie T. Brüggenwirth, Marlies J. Valstar

المساهمون: Pediatrics, Clinical Genetics, Faculteit der Geneeskunde, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Medical Biochemistry

المصدر: Journal of Inherited Metabolic Disease, 33(6), 759-767. Springer Netherlands
Journal of Inherited Metabolic Disease, 33, 759-67
Journal of Inherited Metabolic Disease, 33, 6, pp. 759-67
Journal of inherited metabolic disease, 33(6), 759-767. Springer Netherlands
Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Mucopolysaccharidosis, viruses, Disease, Mucopolysaccharidosis type III, Neuroinformatics [DCN 3], Diagnosis, Differential, Mucopolysaccharidosis III, Pregnancy, Cause of Death, Internal medicine, Intellectual disability, medicine, Genetics, Humans, Missense mutation, Genetics(clinical), Registries, Child, Cells, Cultured, Genetics (clinical), Cause of death, Sanfilippo syndrome, business.industry, Infant, Glycostation disorders [IGMD 4], Delivery, Obstetric, medicine.disease, Phenotype, Child, Preschool, Female, Original Article, business, Functional Neurogenomics [DCN 2], Algorithms

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fe0b2e090a101bd6ddb259df31d1c80Test

المؤلفون: William B. Dobyns, Peter Blümel, Scott Houliston, Dusica Babovic-Vuksanovic, Hudson H. Freeze, Ludwig Lehle, Arjan P.M. de Brouwer, Dominika Swistun, Hans Hombauer, Dirk Lefeber, Bassam R. Ali, Jolanta Sykut-Cegielska, Jennifer L. Silhavy, Ewa Swiezewska, Christian R. H. Raetz, Maciej Adamowicz, Hans van Bokhoven, Vincent Cantagrel, Lihadh Al-Gazali, Ron A. Wevers, Bobby G. Ng, Eva Morava, Stephanie L. Bielas, Ziqiang Guan, Joseph G. Gleeson

المصدر: Cell, 142, 2, pp. 203-17
Cell, 142, 203-17

مصطلحات موضوعية: Mutation, Polyprenol reductase, Glycosylation, Genetics and epigenetic pathways of disease [NCMLS 6], Biochemistry, Genetics and Molecular Biology(all), HUMDISEASE, Biology, Neuroinformatics [DCN 3], Glycostation disorders [IGMD 4], medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Polyprenol, Dolichol, CHEMBIO, N-linked glycosylation, chemistry, Membrane protein, Biochemistry, medicine, Unfolded protein response, lipids (amino acids, peptides, and proteins), Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e097406be1e931b60a9ec756093fe27cTest

المؤلفون: Daniel Hess, Martin Lammens, Lambertus P. van den Heuvel, Dirk J. Lefeber, Martha Spilioti, Ludwig Lehle, Karin M Huyben, Jan Hofsteenge, Athanasios Evangeliou, Jef Yildiz, Maïlys Guillard, Dominique Klein, Johannes Schönberger, Yusuke Maeda, Kiek Verrijp, Olga Grafakou, Hisashi Ashida, Stephanie Grunewald, Eva Morava, Panagiota Manta, Frank Preijers, Christa van den Elzen, Ron A. Wevers

المصدر: American Journal of Human Genetics, 85, 76-86
American Journal of Human Genetics, 85, 1, pp. 76-86

مصطلحات موضوعية: musculoskeletal diseases, Glycosylation, Energy and redox metabolism [NCMLS 4], Protein subunit, Mannosyltransferases, Muscular Dystrophies, Article, chemistry.chemical_compound, Translational research [ONCOL 3], medicine, Perception and Action [DCN 1], Genetics, Humans, Missense mutation, Genetics(clinical), Muscular dystrophy, Dystroglycans, Walker–Warburg syndrome, Genetics (clinical), Renal disorder [IGMD 9], chemistry.chemical_classification, Fukutin-related protein, biology, Membrane Proteins, Glycostation disorders [IGMD 4], medicine.disease, carbohydrates (lipids), Membrane protein, chemistry, biology.protein, Female, Glycoprotein, Functional Neurogenomics [DCN 2], Dolichol Monophosphate Mannose

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ae8ee36632509703ca6a61aaae5498aTest