المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber

المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7

مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
https://doi.org/10.1212/wnl.0b013e3182a08f53Test

المؤلفون: Miranda Theodore, Eva Morava

المصدر: Current Opinion in Pediatrics, 23, 581-7
Current Opinion in Pediatrics, 23, 6, pp. 581-7

مصطلحات موضوعية: Protein glycosylation, congenital, hereditary, and neonatal diseases and abnormalities, Natural course, Glycosylation, business.industry, Conserved oligomeric Golgi complex, Golgi Apparatus, Glycostation disorders [IGMD 4], Lipid Metabolism, Bioinformatics, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Innovative Therapies, chemistry, Pediatrics, Perinatology and Child Health, Immunology, Humans, Medicine, business, Lipid glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61babfa9762fba09545cce2c0d50aae1Test
https://doi.org/10.1097/mop.0b013e32834cd693Test