المؤلفون: Alice Janssen, Lambertus P. van den Heuvel, Maïlys Guillard, Eva Morava, Nina Ondruskova, Hana Hansikova, Jiri Zeman, Machiko Kadoya, Isao Yuasa, Katerina Vesela, Ron A. Wevers, Yoshinao Wada, Dirk J. Lefeber

المصدر: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 901-6
Journal of Inherited Metabolic Disease, 34, 901-6

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], Peptide, Neuroinformatics [DCN 3], CDG - an update, medicine.disease_cause, Renal disorder Energy and redox metabolism [IGMD 9], Models, Biological, Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Catalytic Domain, Genetics, medicine, Humans, Genetics(clinical), Child, Genetics (clinical), chemistry.chemical_classification, Mutation, biology, Isoelectric focusing, Transferrin, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], Molecular biology, Human genetics, Renal disorder Membrane transport and intracellular motility [IGMD 9], Isoelectric point, chemistry, Biochemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Isoelectric Focusing, Perception and Action Glycostation disorders [DCN 1], Protein Processing, Post-Translational, Neuraminidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7dcbabbbc3a6412ee94b427ea67e89Test
https://doi.org/10.1007/s10545-011-9311-yTest

المؤلفون: Uwe Kornak, Miski Mohamed, Thatjana Gardeitchik, Dorus Kouwenberg, Eva Morava, Ron A. Wevers

المصدر: Journal of Inherited Metabolic Disease, 34, 907-16
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 34, 4, pp. 907-16

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Cutis, Wrinkled skin, Neuroinformatics [DCN 3], Biology, CDG - an update, Models, Biological, Cutis Laxa, Genomic disorders and inherited multi-system disorders [IGMD 3], Extracellular matrix, Congenital Disorders of Glycosylation, Genetics, medicine, Guanine Nucleotide Exchange Factors, Humans, Genetics(clinical), In patient, Menkes Kinky Hair Syndrome, Genetics (clinical), Ornithine-Oxo-Acid Transaminase, integumentary system, Syndrome, Glycostation disorders [IGMD 4], medicine.disease, Pyrroline Carboxylate Reductases, Menkes disease, Differential diagnosis, Perception and Action Glycostation disorders [DCN 1], Carrier Proteins, Metabolic Networks and Pathways, Cutis laxa

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67aa524ee404cf04c01d2410dddc726Test
http://hdl.handle.net/2066/98094Test

المؤلفون: Dirk Lefeber, Vincent Cantagrel

المصدر: Journal of Inherited Metabolic Disease, 34, 4, pp. 859-67
Journal of Inherited Metabolic Disease, 34, 859-67
Journal of Inherited Metabolic Disease

مصطلحات موضوعية: Glycan, Glycosylation, Membrane lipids, Neuroinformatics [DCN 3], CDG - an update, Models, Biological, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Dolichol, Metabolic Diseases, Biosynthesis, Dolichols, Organelle, Genetics, Animals, Humans, Genetics(clinical), Genetics (clinical), Cellular compartment, biology, Endoplasmic reticulum, Cell biology, carbohydrates (lipids), chemistry, Biochemistry, biology.protein, lipids (amino acids, peptides, and proteins), Perception and Action Glycostation disorders [DCN 1], Protein Processing, Post-Translational

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90a371609327c259285f41d5cb8e0723Test

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, 923-7

مصطلحات 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