نتائج البحث - "Glycostation disorders [IGMD 4]"

1

Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

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

2

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy

المصدر: Annals of Neurology, 72, 550-8
Annals of neurology 72 (2012): 550–558. doi:10.1002/ana.23632
info:cnr-pdr/source/autori:R.Barone, Ch.Aiello, V.Race, E.Morava, F.Foulquier, M.Riemersma, Ch.Passarelli, D.Concolino, M.Carella, F.Santorelli, W.Vleugels, E.Mercuri, D.Garozzo, L.Sturiale, S.Messina, J.Jaeken, A.Fiumara, R.A.Wevers, E.Bertini, G.Matthijs, D. J.Lefeber/titolo:DPM2-CDG: A Muscular Dystrophy-Dystroglycanopathy Syndrome with Severe Epilepsy/doi:10.1002%2Fana.23632/rivista:Annals of neurology/anno:2012/pagina_da:550/pagina_a:558/intervallo_pagine:550–558/volume:72
Annals of Neurology, 72, 4, pp. 550-8

مصطلحات موضوعية: Male, Glycosylation, DNA Mutational Analysis, Drug Resistance, Endoplasmic Reticulum, medicine.disease_cause, Compound heterozygosity, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Congenital Disorders of Glycosylation, Pregnancy, Missense mutation, Muscular dystrophy, Child, Dystroglycans, Mutation, Liver Diseases, Middle Aged, Hypotonia, Neurology, Child, Preschool, Microcephaly, Female, medicine.symptom, Lipid glycosylation, Adult, medicine.medical_specialty, Adolescent, Molecular Sequence Data, Mutation, Missense, Vision Disorders, DOLICHOL-PHOSPHATE-MANNOSE, CAUSES CONGENITAL DISORDER, MAMMALIAN-CELLS, GLYCOSYLATION, SYNTHASE, BIOSYNTHESIS, GENE, DPM1, PROTEIN, IE, Coagulation Protein Disorders, Biology, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Internal medicine, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Aged, Epilepsy, Electromyography, Endoplasmic reticulum, Infant, Glycostation disorders [IGMD 4], Fibroblasts, medicine.disease, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Endocrinology, chemistry, Neurology (clinical), Isoelectric Focusing, Mannose