-
1
المؤلفون: Marinette van der Graaf, Michèl A.A.P. Willemsen, Thomas Theelen, Hans R. Waterham, Ron A. Wevers, Joris Fuijkschot, Imelda J. M. de Groot, Marieke M B Seyger, Ronald J.A. Wanders
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases
المصدر: Journal of inherited metabolic disease, 35(6), 955-962. Springer Netherlands
Journal of Inherited Metabolic Disease, 35, 955-62
Journal of Inherited Metabolic Disease, 35, 6, pp. 955-62مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, DCN MP - Plasticity and memory, MEDLINE, Eye, Auto-immunity, transplantation and immunotherapy [N4i 4], Evaluation of complex medical interventions Functional imaging [NCEBP 2], Original research, Genomic disorders and inherited multi-system disorders [IGMD 3], Pregnancy, Genetics, medicine, Humans, Medical physics, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], Skin pathology, DCN NN - Brain networks and neuronal communication, Health aging / healthy living Cardiovascular diseases [IGMD 5], Genetics (clinical), Skin, Sjögren–Larsson syndrome, integumentary system, business.industry, Infant, Newborn, Brain, Diagnostic test, Functional imaging [IGMD 1], Genetic Therapy, Glycostation disorders [IGMD 4], medicine.disease, Aldehyde Oxidoreductases, Carotenoids, Human Movement & Fatigue DCN PAC - Perception action and control [NCEBP 10], Review article, Clinical Practice, Sjogren-Larsson Syndrome, Mutation, Premature Birth, Treatment strategy, Female, Bezafibrate, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31de274646bc41042af17b338ca8a6eeTest
https://doi.org/10.1007/s10545-012-9518-6Test -
2
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 Netherlandsمصطلحات 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 -
3
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, 707-14مصطلحات 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 -
4
المؤلفون: Sandra G. Heil, Eva Morava, Leo A. J. Kluijtmans, Gerard B. van de Berg, P. J. van Dijken, Marije Hogeveen, Henk J. Blom
المصدر: Journal of Inherited Metabolic Disease, 30, 811-811
Journal of Inherited Metabolic Disease, 30, 5, pp. 811-811مصطلحات موضوعية: Male, DNA Mutational Analysis, Methylmalonic acid, Vascular medicine and diabetes [UMCN 2.2], Marfan Syndrome, chemistry.chemical_compound, Arachnodactyly, Child, Homocysteine, Genetics (clinical), Cardiovascular diseases [NCEBP 14], Marfanoid, Exons, Vitamins, Pedigree, Vitamin B 12, Mitochondrial medicine [IGMD 8], Phenotype, Treatment Outcome, Female, Homocystinuria, Oxidoreductases, Heterozygote, medicine.medical_specialty, Energy and redox metabolism [NCMLS 4], Adolescent, Biology, Cobalamin, Genomic disorders and inherited multi-system disorders [IGMD 3], Diagnosis, Differential, Folic Acid, Carnitine, Internal medicine, Genetics, medicine, Humans, Cysteine, Genetic Testing, Glycostation disorders [IGMD 4], medicine.disease, MMACHC, Vitamin B 6, Endocrinology, chemistry, Methylmalonic aciduria, Mutation, CBLC, Carrier Proteins, Metabolism, Inborn Errors, Methylmalonic Acid
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a1ea8398a7fb125aac68102c043a19dTest
https://doi.org/10.1007/s10545-007-0546-6Test -
5
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 Diseaseمصطلحات 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
-
6
المؤلفون: Hélène Ogier de Baulny, Jaak Jaeken, Frits A. Wijburg, Joanna L. Elson, Regina Ensenauer, Ron A. Wevers, Dorus Kouwenberg, Thatjana Gardeitchik, Miranda Theodore, Robert McFarland, Miski Mohamed, Maaike de Vries, Samira Achouitar, Stephanie Grunewald, Jolanta Sykut-Cegielska, Saskia B. Wortmann, Katrin Õunap, Diego Martinelli, Leo G.J. Nijtmans, Eva Morava
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases
المصدر: Journal of inherited metabolic disease, 34(4), 923-927. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 923-7
Journal of Inherited Metabolic Disease, 34, 923-7مصطلحات موضوعية: Male, Research design, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Psychological intervention, CDG - an Update, Neurological examination, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Cohort Studies, Congenital Disorders of Glycosylation, Rating scale, Genetics, Humans, Medicine, Genetics(clinical), Child, Genetics (clinical), medicine.diagnostic_test, business.industry, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Prognosis, Clinical trial, Natural history, Research Design, Child, Preschool, Disease Progression, Female, Perception and Action Glycostation disorders [DCN 1], business, Natural history study, Cohort study
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5562b8b7ba547d43e4fecc43b6771deTest
