نتائج البحث - "Glycostation disorders [IGMD 4]"

21

Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation

المؤلفون: Morava, E., Hamel, B.C.J., Hol, F.A., Rodenburg, R.J.T., Smeitink, J.A.M.

المصدر: American Journal of Medical Genetics. Part A, 140, 20, pp. 2248-50
American Journal of Medical Genetics. Part A, 140, 2248-50

مصطلحات موضوعية: Genomic disorders and inherited multi-system disorders [IGMD 3], Mitochondrial medicine [IGMD 8], Energy and redox metabolism [NCMLS 4], Genetic defects of metabolism [UMCN 5.1], Glycostation disorders [IGMD 4], Cellular energy metabolism [UMCN 5.3], Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::96d1ad0e9b2e90d964cc11c6ebf66f1fTest
https://hdl.handle.net/2066/50523Test

22

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

المؤلفون: Johann Penzien, Michèl A.A.P. Willemsen, Olaf Bodamer, Dirk J. Lefeber, Ron A. Wevers, Jorg de Ruijter, Arjan P.M. de Brouwer, Tony Roscioli, Lambert P. van den Heuvel, Eva Morava, Maïlys Guillard

المصدر: Guillard, M, Morava, E, de Ruijter, J, Roscioli, T, Penzien, J, van, D H L, Willemsen, MA, de, B A, Bodamer, OA, Wevers, RA & Lefeber, DJ 2011, ' B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement ', The Journal of Pediatrics, vol. 159, no. 6, pp. 1041-1043.e2 . https://doi.org/10.1016/j.jpeds.2011.08.007Test
Journal of Pediatrics, 159, 1041-1043 e2
Journal of Pediatrics, 159, 6, pp. 1041-1043 e2

مصطلحات موضوعية: Male, Glycosylation, GALACTOSYLTRANSFERASE DEFICIENCY, Single-nucleotide polymorphism, Neuroinformatics [DCN 3], Genomic disorders and inherited multi-system disorders [IGMD 3], chemistry.chemical_compound, Congenital Disorders of Glycosylation, Medicine, SNP, Humans, Pediatrics, Perinatology, and Child Health, Clinical phenotype, Child, Psychomotor learning, business.industry, Liver Diseases, Glycostation disorders [IGMD 4], Galactosyltransferases, Phenotype, Multisystem disease, Intestinal Diseases, chemistry, Pediatrics, Perinatology and Child Health, Immunology, Female, business, Perception and Action Glycostation disorders [DCN 1], Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Functional Neurogenomics [DCN 2]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e10368a016a5a0b03c58e412ff9be61eTest
https://doi.org/10.1016/j.jpeds.2011.08.007Test

23

Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations

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