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1دورية أكاديميةMimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2326-4594
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المؤلفون: Alberto Volpini, Malkanthi Fernando, Sidney Behringer, Elisabetta Cesaroni, Jörn Oliver Sass, Ida Cursio, Claudia Till
المصدر: Brain and Development. 42:226-230
مصطلحات موضوعية: Genetics, RNA, General Medicine, Biology, medicine.disease, Serine, 03 medical and health sciences, Exon, genomic DNA, 0302 clinical medicine, Developmental Neuroscience, Inborn error of metabolism, Pediatrics, Perinatology and Child Health, RNA splicing, medicine, Neurology (clinical), Gene, 030217 neurology & neurosurgery, Glycerate kinase
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3
المصدر: Clinical Toxicology. 55:260-266
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Arginine, N-Acetylglutamate synthase, medicine.medical_treatment, Amino-Acid N-Acetyltransferase, Toxicology, Drug overdose, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Ammonia, Renal Dialysis, Carnitine, Internal medicine, medicine, Humans, Hyperammonemia, Coma, Valproic Acid, biology, Chemistry, General Medicine, medicine.disease, 030104 developmental biology, Anesthesia, biology.protein, Female, Acyl Coenzyme A, Hemodialysis, Drug Overdose, medicine.symptom, 030217 neurology & neurosurgery, medicine.drug
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المؤلفون: Malkanthi Fernando, Jörn Oliver Sass, PE Fitzsimons, Claudia Till, Ellen Crushell, Attia Kalim, Philip Mayne
المصدر: Brain and Development. 39:536-538
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Arginine, Biology, Serine, Excretion, 03 medical and health sciences, Exon, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, medicine, Humans, Global developmental delay, Family Health, Kinase, Catabolism, Phosphotransferases, General Medicine, Magnetic Resonance Imaging, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Endocrinology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, Urine organic acids
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5
المؤلفون: Roja Bozorgzad, Malkanthi Fernando, Süleyman Ergün, Tobias Pottek, Heidrun Lauke, Nerbil Kilic, Samira Neshat-Vahid
المصدر: Molecular Human Reproduction. 10:247-252
مصطلحات موضوعية: Male, endocrine system, Embryology, medicine.medical_specialty, Angiogenesis, Testicle, Biology, Antigens, CD, Semen, Internal medicine, Genetics, medicine, Humans, Spermatogenesis, Cell adhesion, Molecular Biology, Blood–testis barrier, Epididymis, Sertoli Cells, urogenital system, Obstetrics and Gynecology, Cell Biology, Seminiferous Tubules, Sertoli cell, Antigens, Differentiation, Up-Regulation, Cell biology, Endocrinology, medicine.anatomical_structure, Seminiferous tubule, Reproductive Medicine, Cell Adhesion Molecules, Carcinoma in Situ, Germ cell, Developmental Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ae119fafd22d4b150941774c03de424
https://doi.org/10.1093/molehr/gah020 -
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المؤلفون: Hermann Herbst, Nerbil Kilic, Malkanthi Fernando, Peter Hammerer, Süleyman Ergün, Fariba Chalajour, Katrin Lamszus, Judah Folkman, Alireza Ebrahimnejad, Ergin Kilic, Walter Fiedler, Joachim Weil, Sema Sevinc, Heidrun Lauke, Jan-Henner Wurmbach
المصدر: Angiogenesis. 4:193-206
مصطلحات موضوعية: Basement membrane, Tube formation, Cancer Research, Endothelium, Physiology, Angiogenesis, Clinical Biochemistry, macromolecular substances, Biology, Vascular endothelial growth factor, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Blood vessel maturation, Immunology, cardiovascular system, medicine, Cancer research, Endostatin, Immunostaining
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المؤلفون: Jan Henner Wurmbach, Arne Hansen, Julica Götze, Malkanthi Fernando, Peter Nollau, Süleyman Ergün, Nerbil Kilic, Andrea Kristina Horst, Christoph Wagener, Gudrun Ziegeler, Joachim Weil
المصدر: Molecular Cell. 5(2):311-320
مصطلحات موضوعية: Angiogenesis, Cell Biology, Biology, Vascular endothelial growth inhibitor, Cell biology, Endothelial stem cell, Vascular endothelial growth factor, Vascular endothelial growth factor B, chemistry.chemical_compound, Vascular endothelial growth factor A, Vasculogenesis, chemistry, Vascular endothelial growth factor C, Molecular Biology
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المؤلفون: Martin Lindner, Manuela Popek, Malkanthi Fernando, Jörn Oliver Sass, Karl Otfried Schwab, Melanie Walter
المصدر: Clinica chimica acta; international journal of clinical chemistry. 411(23-24)
مصطلحات موضوعية: Male, medicine.medical_specialty, Clinical Biochemistry, DNA Mutational Analysis, Glycine, Glutaryl-CoA dehydrogenase, Glutaric aciduria type 1, Glutaric acid, Biochemistry, chemistry.chemical_compound, Valine, Internal medicine, medicine, Missense mutation, Humans, Carnitine, Amino Acid Metabolism, Inborn Errors, Newborn screening, Base Sequence, Glutaryl-CoA Dehydrogenase, business.industry, Brain Diseases, Metabolic, Biochemistry (medical), Glutaric aciduria, Infant, Newborn, General Medicine, medicine.disease, Endocrinology, chemistry, Molecular Diagnostic Techniques, Female, business, medicine.drug, Follow-Up Studies
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المؤلفون: Bernhard B. Singer, Oliver Reich, Ster Irmak, Andrea T. Hooper, Malkanthi Fernando, Süleyman Ergün, Derya Tilki, Christian G. Stief, Andreas Behrend, Alexander Buchner, Shahrokh F. Shariat
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Urology, Urinary system, Blotting, Western, Urinary Bladder, Medizin, Enzyme-Linked Immunosorbent Assay, Urine, Risk Assessment, Sensitivity and Specificity, fluids and secretions, Antigens, CD, Predictive Value of Tests, Risk Factors, Germany, Biomarkers, Tumor, Odds Ratio, Medicine, Humans, Neoplasm Invasiveness, Prospective Studies, Urothelium, Prospective cohort study, Neoplasm Staging, Bladder cancer, Chi-Square Distribution, business.industry, Carcinoma, Area under the curve, Case-control study, Cancer, Endothelial Cells, medicine.disease, Prognosis, Immunohistochemistry, Up-Regulation, Logistic Models, Urinary Bladder Neoplasms, Case-Control Studies, embryonic structures, business, Cell Adhesion Molecules
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8b5eea044e313e79408cab9ea29b6e4
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=77249084117 -
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المؤلفون: Christoph Kannicht, Andrea Kristina Horst, Christoph Wagener, Lothar Lucka, Malkanthi Fernando, Peter Nollau, Detlef Grunow
المصدر: Glycobiology. 15(1)
مصطلحات موضوعية: Glycan, Glycoside Hydrolases, Blotting, Western, Oligosaccharides, Biochemistry, Epitope, Fucose, Antibodies, Cell Line, chemistry.chemical_compound, Exoglycosidase, Antigens, CD, Polysaccharides, Humans, Fucosidase, Sialyl Lewis X Antigen, chemistry.chemical_classification, biology, Cell adhesion molecule, Monosaccharides, Adhesion, Oligosaccharide, Antigens, Differentiation, chemistry, Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization, biology.protein, Cell Adhesion Molecules, Granulocytes
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cb9e65669f3a772a9a53152a84fec21
https://pubmed.ncbi.nlm.nih.gov/15317738