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1Academic Journal
المؤلفون: Alagöz, Meryem, Kherad, Nasim, Türkmen, Selda, Bulut, Hatice, Yüksel, Adnan
المساهمون: İÜC, Cerrahpaşa Tıp Fakültesi, Temel Tıp Bilimleri Bölümü
مصطلحات موضوعية: 3-methylglutaconic aciduria with deafness, encephalopathy and Leigh-like syndrome, serine active site-containing protein 1, SERAC1 gene, whole-exome sequencing, mutation, rare disease
وصف الملف: application/pdf
Relation: Experimental And Therapeutic Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3892/etm.2020.8658; https://hdl.handle.net/20.500.12831/227; 19; 3505; 3512
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2Academic Journal
المؤلفون: Sequeira, S., Rodrigues, M., Jacinto, S., Wevers, R.A., Wortmann, S.B.
المصدر: Neuropediatrics 48, 382-384 (2017)
مصطلحات موضوعية: 3-methylglutaconic Aciduria, Leigh Syndrome, Megdel Syndrome, Mitochondrial Disorder, Serac1 Gene
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/28505671; info:eu-repo/semantics/altIdentifier/wos/WOS:000409555300011; info:eu-repo/semantics/altIdentifier/isbn/0174-304X; info:eu-repo/semantics/al; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51189; urn:isbn:0174-304X; urn:issn:0174-304X; urn:issn:1439-1899
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المؤلفون: Katarzyna Iwanicka-Pronicka, Maciej Pronicki, Dorota Piekutowska-Abramczuk, Paulina Halat, Magdalena Pajdowska, Elżbieta Ciara
المصدر: International Journal of Pediatric Otorhinolaryngology. 121:143-149
مصطلحات موضوعية: Male, Heterozygote, Pediatrics, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Mitochondrial disease, Cell Cycle Proteins, Deafness, DNA, Mitochondrial, Hearing screening, Cochlear function, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, 030225 pediatrics, Ribonucleotide Reductases, otorhinolaryngologic diseases, medicine, Humans, Child, 030223 otorhinolaryngology, MPV17, Hearing deficit, business.industry, Hearing Tests, Infant, Newborn, Infant, SERAC1 gene, General Medicine, Research process, medicine.disease, Hospitals, Otorhinolaryngology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Poland, medicine.symptom, business, Carboxylic Ester Hydrolases
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المؤلفون: Maas, R. R., Iwanicka-Pronicka, K., Kalkan Ucar, S., Alhaddad, B., AlSayed, M., Al-Owain, M. A., Al-Zaidan, H. I., Balasubramaniam, S., Barić, I., Bubshait, D. K., Burlina, A., Christodoulou, J., Chung, W. K., Colombo, R., Darin, Niklas, 1964, Freisinger, P., Garcia Silva, M. T., Grunewald, S., Haack, T. B., van Hasselt, P. M., Hikmat, O., Hörster, F., Isohanni, P., Ramzan, K., Kovacs-Nagy, R., Krumina, Z., Martin-Hernandez, E., Mayr, J. A., McClean, P., De Meirleir, L., Naess, K., Ngu, L. H., Pajdowska, M., Rahman, S., Riordan, G., Riley, L., Roeben, B., Rutsch, F., Santer, R., Schiff, M., Seders, M., Sequeira, S., Sperl, W., Staufner, C., Synofzik, M., Taylor, R. W., Trubicka, J., Tsiakas, K., Unal, O., Wassmer, E., Wedatilake, Y., Wolff, T., Prokisch, H., Morava, E., Pronicka, E., Wevers, R. A., de Brouwer, A. P., Wortmann, S. B.
المصدر: Annals of Neurology. 82(6):1004-1015
مصطلحات موضوعية: Neurology, Neurologi, 3 methylglutaconic acid, lactic acid, carboxylesterase, SERAC1 protein, human, 3 methylglutaconic aciduria dystonia deafness hepatopathy encephalopathy Leigh like syndrome, aciduria, adolescent, adult, Article, basal ganglion, brain disease, child, clinical feature, communication skill, differential diagnosis, disease course, dyskinesia, dystonia, epilepsy, female, gene, gene mutation, genetic variability, hearing impairment, human tissue, hypersalivation, hypoglycemia, incidence, infant, intellectual impairment, intelligence, lactate blood level, lactic acidosis, Leigh disease, liver disease, liver dysfunction, liver failure, major clinical study, multicenter study, muscle biopsy, muscle hypotonia, neuroimaging, neuroradiology, newborn, newborn disease, nuclear magnetic resonance imaging, optic nerve atrophy, perception deafness, phenotype, priority journal, prognosis, putamen, serac1 gene, spasticity, speech development, survival, tongue disease, visual impairment, walking, amino acid sequence, clinical trial, cohort analysis, deafblindness, diagnostic imaging, disease exacerbation, genetics, male, mutation, preschool child, young adult, Carboxylic Ester Hydrolases, Child, Preschool, Cohort Studies, Deaf-Blind Disorders, Disease Progression, Humans, Infant, Newborn, Intellectual Disability, Optic Atrophy
URL الوصول: https://gup.ub.gu.se/publication/264592
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المؤلفون: Tawfeeq Jundi, Imad Dweikat, Samer Abdelrazeq, Suhail Ayesh
المصدر: Journal of Child Neurology. 30:1053-1056
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Muscle Hypotonia, Hearing Loss, Sensorineural, Respiratory chain, MEGDEL syndrome, Biology, medicine.disease_cause, Frameshift mutation, Consanguinity, Cerebrospinal fluid, medicine, Humans, Alanine, Mutation, Infant, SERAC1 gene, Magnetic Resonance Imaging, Arabs, Motor Skills Disorders, Pediatrics, Perinatology and Child Health, Neurology (clinical), Leigh Disease, Carboxylic Ester Hydrolases
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المؤلفون: G. Herma Renkema, Sema Kalkan Uçar, Saskia B. Wortmann, Hans van Bokhoven, Jan A.M. Smeitink, Wigard P. Kloosterman, Joachim M. Gerhold, Wim Kulik, Frédéric M. Vaz, Leo A. J. Kluijtmans, Richard J. Rodenburg, Ewa Pronicka, Kapil K Singhal, Johannes N. Spelbrink, Ron A. Wevers, Leo G.J. Nijtmans, Dirk Lefeber, Christian Gilissen, Christine Klein, Joris A. Veltman, Martin Lammens, Anne Grünewald, Peter M. van Hasselt, Tamas Kozicz, Janneke H M Schuurs-Hoeijmakers, Karin Naess, Christin Christin, Thatjana Gardeitchik, Arjan P.M. de Brouwer, Lisenka E.L.M. Vissers, Zita Krumina, Magdalena Harakalova, Eva Morava, Ivo Barić
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory Genetic Metabolic Diseases
المصدر: Nature Genetics, 44, 7, pp. 797-802
Nature genetics, 44(7), 797-U231. Nature Publishing Group
Nature Genetics, 44, 797-802
Nature Genetics; Vol 44مصطلحات موضوعية: Mitochondrion, Deafness, medicine.disease_cause, Oxidative Phosphorylation, chemistry.chemical_compound, 0302 clinical medicine, Cardiolipin, Exome, Phospholipids, Cell Line, Transformed, 0303 health sciences, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Phosphatidylglycerols, 3-Methylglutaconic Aciduria, Mitochondria, Complementation, Dystonia, Cholesterol, Mitochondrial medicine [IGMD 8], lipids (amino acids, peptides, and proteins), Intracellular, medicine.medical_specialty, Cardiolipins, Molecular Sequence Data, Biology, Filipin, 03 medical and health sciences, exome sequencing, SERAC1 gene, mitochondrial function, dystonia, deafness, Internal medicine, Cell Line, Tumor, Genetics, medicine, Humans, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Amino Acid Sequence, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Endoplasmic reticulum, Fibroblasts, Glycostation disorders [IGMD 4], Molecular biology, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Mitochondrial medicine Membrane transport and intracellular motility [IGMD 8], Endocrinology, HEK293 Cells, chemistry, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Carboxylic Ester Hydrolases, Sequence Alignment, 030217 neurology & neurosurgery, HeLa Cells
وصف الملف: application/pdf
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