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المؤلفون: Ira Benkel, Argirios Dinopoulos, Eugen Boltshauser, Cornelia Betzler, Christine Coubes, Johannes Koch, Jan Lotte, Saskia B. Wortmann, Karin Brugger, Ron A. Wevers, Jörgen Bierau, Daisy Rymen, Julie D. Kaplan, Marieke Wermuth, Marianne Rohrbach, Hans Hartmann, Daniel N. Willis, Johannes A. Mayr, Mohammad Hasan Mohammadi, Martijn Lindhout, Farah Ashrafzadeh, Maria Spanou, Diana Ballhausen
المساهمون: University of Zurich, Wortmann, Saskia B, MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output
المصدر: Genetics in Medicine, 22(10), 1589-1597. Nature Publishing Group
Genetics in Medicine, 22, 10, pp. 1589-1597
Genetics in Medicine, 22, 1589-1597مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), early infantile epileptic encephalopathy-50, Uridine Triacetate, 610 Medicine & health, Status epilepticus, 030105 genetics & heredity, Bioinformatics, 03 medical and health sciences, chemistry.chemical_compound, Epilepsy, Uridine monophosphate, Medicine, Humans, BRAIN, Nucleotide salvage, Uridine, Genetics (clinical), Genetic testing, Retrospective Studies, Newborn screening, medicine.diagnostic_test, business.industry, MUTATIONS, Infant, Newborn, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, anemia, ACIDURIA, developmental delay, 030104 developmental biology, chemistry, 10036 Medical Clinic, Dietary Supplements, medicine.symptom, business, Spasms, Infantile, Dyserythropoietic anemia, EIEE
وصف الملف: Expanding_the_clinical_and_genetic_spectrum_of_CAD_deficiency_an_epileptic_encephalopathy_treatable_with_uridine_supplementa.pdf - application/pdf; application/pdf
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المؤلفون: Kristina Möller, Martin Claßen, Birgit Kauffmann, Tina Rating, Marieke Wermuth
المصدر: Neuropediatrics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, medicine, IPEX syndrome, Risk factor, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::36e938561368b4ae0ff43f3b3033a544
https://doi.org/10.1055/s-0039-1698246 -
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المؤلفون: Kristina Möller, Marieke Wermuth, Birgit Kauffmann, Tina Rating
المصدر: Neuropediatrics.
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Dysplasia, business.industry, medicine, medicine.disease, business, Stroke
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b9c84f1ea1a217070d6811656696d7a
https://doi.org/10.1055/s-0039-1698247 -
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المصدر: Neuropediatrics.
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Unusual case, business.industry, ATP1A3, Medicine, Cerebellar atrophy, Disease, Differential diagnosis, business, medicine.disease, Stroke
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::64ac889e8e0c7640b5e1f439518f4e07
https://doi.org/10.1055/s-0039-1698193 -
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المؤلفون: Sebastien Moutton, Gholson J. Lyon, Leah Gottlieb, Raphael Bernier, Hanyin Cheng, Linyan Meng, Fowzan S. Alkuraya, Ronen Marmorstein, Birgit Kauffmann, Bettina Blaumeiser, Christophe Philippe, Marieke Wermuth, Alan F. Rope, R. Frank Kooy, Elaine Marchi, Robert Kleyner, Holly A.F. Stessman, Zhao Chen, Grazia M.S. Mancini, Diana Baralle, Sarah Rosenheck, Simon J. Conway, Rafael Mena, Carlos E. Prada, Janet Toribio, Puja Bhardwaj, Fan Xia, Ljubisa Mihajlovic, Wafaa Eyaid
المساهمون: Clinical Genetics
المصدر: Hum Mol Genet
Human Molecular Genetics, 28(17), 2900-2919. Oxford University Press
Human molecular geneticsمصطلحات موضوعية: Male, Models, Molecular, 0301 basic medicine, Protein Conformation, Microphthalmia, 0302 clinical medicine, Enzyme Stability, Missense mutation, N-Terminal Acetyltransferase E, Child, N-Terminal Acetyltransferase A, Exome sequencing, Genetics (clinical), Genetics, biology, General Medicine, Phenotype, Recombinant Proteins, Chemistry, Child, Preschool, HMG-CoA reductase, Cohort, Female, General Article, Corrigendum, Adult, NatA complex, medicine.medical_specialty, Adolescent, Genotype, Frameshift mutation, Structure-Activity Relationship, Young Adult, 03 medical and health sciences, Molecular genetics, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele, Biology, Molecular Biology, Alleles, Genetic Association Studies, Computational Biology, Facies, Genetic Variation, Infant, medicine.disease, Enzyme Activation, Lenz microphthalmia syndrome, 030104 developmental biology, Genetic Loci, Mutation, biology.protein, Human medicine, Biomarkers, 030217 neurology & neurosurgery, NAA15
وصف الملف: text
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::851d753db0e2964a479d2225e3cc4c59
https://pubmed.ncbi.nlm.nih.gov/31127942
Find this article in full text from Springer Verlag.