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1دورية أكاديمية
المؤلفون: Falkenberg, KD, Braverman, NE, Moser, AB, Steinberg, SJ, Klouwer, FCC, Schluter, A, Ruiz, M, Pujol, A, Engvall, M, Naess, K, van Spronsen, F, Korver-Keularts, I, Rubio-Gozalbo, ME, Ferdinandusse, S, Wanders, RJA, Waterham, HR
المصدر: American journal of human genetics. 101(6):965-976
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Tangeraas, T, Sæves, I, Klingenberg, C, Jørgensen, J, Kristensen, E, Gunnarsdottir, G, Hansen, EV, Strand, J, Lundman, E, Ferdinandusse, S, Salvador, CL, Woldseth, B, Bliksrud, YT, Sagredo, C, Olsen, ØE, Berge, MC, Trømborg, AK, Ziegler, A, Zhang, JH, Sørgjerd, LK, Ytre-Arne, M, Hogner, S, Løvoll, SM, Kløvstad Olavsen, MR, Navarrete, D, Gaup, HJ, Lilje, R, Zetterström, RH, Stray-Pedersen, A, Rootwelt, T, Rinaldo, P, Rowe, AD, Pettersen, RD
المصدر: International journal of neonatal screening. 6(3):51
مصطلحات موضوعية: Medicin och hälsovetenskap
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3
المؤلفون: Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, Niklas, 1964, Oldfors Hedberg, Carola, 1969, Regal, L., Kaat, L. D., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G., Ferdinandusse, S.
المصدر: Journal of Inherited Metabolic Disease. 45(4):819-831
مصطلحات موضوعية: Neurology, Neurologi, Pediatrics, Pediatrik, long-chain fatty acid oxidation disorders, long-chain ketoacyl-CoA, thiolase deficiency, mitochondrial trifunctional protein complex, mitochondrial trifunctional protein deficiency, myopathy, thermo-sensitivity, fatty-acid oxidation, beta-oxidation, defects, pathophysiology, dehydrogenase, disorders, mutations, enzyme, Endocrinology & Metabolism, Genetics & Heredity, Research & Experimental, Medicine
الوصول الحر: https://gup.ub.gu.se/publication/316437Test
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4
المؤلفون: Blomqvist, Maria K., 1975, Ahlberg, K., Lindgren, Julia, 1981, Ferdinandusse, S., Asin-Cayuela, Jorge
المصدر: Journal of Medical Case Reports. 11(1)
مصطلحات موضوعية: Neurology, Neurologi, Case report, Peroxisome biogenesis disorder, PEX10, Zellweger spectrum disorder
الوصول الحر: https://gup.ub.gu.se/publication/258887Test