The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency von Baumgartner, M R, Almashanu, S, Suormala, T, Obie, C, Cole, R N, Packman, S, Baumgartner, E R, Valle, D

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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency von Andresen, Brage Storstein, Olpin, Simon, Poorthuis, Ben J.H.M., Scholte, Hans R., Vianey-Saban, Christine, Wanders, Ronald, Ijlst, Lodewijk, Morris, Andrew, Pourfarzam, Morteza, Bartlett, Kim, Baumgartner, E. Regula, deKlerk, Johannis B.C., Schroeder, Lisbeth Dahl, Corydon, Thomas J., Lund, Hans, Winter, Vibeke, Bross, Peter, Bolund, Lars, Gregersen, Niels

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Coenzyme Q₁₀ is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria von Haas, D, Niklowitz, P, Hörster, F, Baumgartner, E. R, Prasad, C, Rodenburg, R. J, Hoffmann, G. F, Menke, T, Okun, J. G

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Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: A 42-year follow-up von Haarmann, A., Mayr, M., Kölker, S., Baumgartner, E.R., Schnierda, J., Hopfer, H., Devuyst, O., Baumgartner, M.R.

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The First Case of 3-Methylcrotonyl-CoA Carboxylase (MCC) Deficiency Responsive to Biotin von Friebel, D., von der Hagen, M., Baumgartner, E. R., Fowler, B., Hahn, G., Feyh, P., Heubner, G., Baumgartner, M. R., Hoffmann, G. F.

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Treatment with humanized monoclonal antibody against CD154 prevents acute renal allograft rejection in nonhuman primates von Kirk, Allan D, Burkly, Linda C, Batty, D. Scott, Baumgartner, Roxanne E, Berning, Justin D, Buchanan, Kelvin, Fechner, John H, Germond, Rhonda L, Kampen, Robert L, Patterson, Noelle B, Swanson, S. John, Tadaki, Douglas K, TenHoor, Christopher N, White, Leonard, Knechtle, Stuart J, Harlan, David M

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Malignant Seminoma with Metastasis, Sertoli Cell Tumor, and Pheochromocytoma in a Spotted Dolphin (Stenella frontalis) and Malignant Seminoma with Metastasis in a Bottlenose Dolphi... von Estep, J. S, Baumgartner, R. E, Townsend, F, Pabst, D. A, Mclellan, W. A, Friedlaender, A, Dunn, D. G, Lipscomb, T. P

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Biotin and biocytin uptake into cultured primary calf brain microvessel endothelial cells of the blood–brain barrier von Baur, Barbara, Baumgartner, E.Regula

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Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria von Haas, D, Niklowitz, P, Hörster, F, Baumgartner, E R, Prasad, C, Rodenburg, R J, Hoffmann, G F, Menke, T, Okun, J G

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Seventeen novel mutations that cause profound biotinidase deficiency von Wolf, B, Jensen, K, Hüner, G, Demirkol, M, Baykal, T, Divry, P, Rolland, M.-O, Perez-Cerdá, C, Ugarte, M, Straussberg, R, Basel-Vanagaite, L, Baumgartner, E.R, Suormala, T, Scholl, S, Das, A.M, Schweitzer, S, Pronicka, E, Sykut-Cegielska, J

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Transcobalamin II deficiency with methylmalonic aciduria in three sisters von Bibi, H., Gelman‐Kohan, Z., Baumgartner, E. R., Rosenblatt, D. S.

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Late-onset holocarboxylase synthetase-deficiency : pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy von SUORMALA, T, FOWLER, B, JAKOBS, C, DURAN, M, LEHNERT, W, RAAB, K, WICK, H, BAUMGARTNER, E. R

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Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects von Santer, R, Muhle, H, Suormala, T, Baumgartner, E.R, Duran, M, Yang, X, Aoki, Y, Suzuki, Y, Stephani, U

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Perioperative management of a child with very‐long‐chain acyl‐coenzyme A dehydrogenase deficiency von STEINER, L.A., STUDER, W., BAUMGARTNER, E.R., FREI, F.J.

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Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy von Baumgartner, Matthias R., Dantas, M.Fernanda, Suormala, Terttu, Almashanu, Shlomo, Giunta, Cecilia, Friebel, Dolores, Gebhardt, Boris, Fowler, Brian, Hoffmann, Georg F., Baumgartner, E.Regula, Valle, David

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Delayed-onset profound biotinidase deficiency von Wolf, Barry, Pomponio, Robert J., Norrgard, Karen J., Lott, Ira T., Baumgartner, E.Regula, Suormala, Terttu, Ramaekers, Vincent Th, Coskun, Turgay, Tokatli, Aysegul, Ozalp, Imran, Hymes, Jeanne

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Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency von SAKAMOTO, O, SUZUKI, Y, XUE LI, AOKI, Y, HIRATSUKA, M, SUORMALA, T, BAUMGARTNER, E. R, GIBSON, K. M, NARISAWA, K

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Primate skin allotransplantation with anti-CD154 monotherapy von Elster, E.A, Xu, H, Tadaki, D.K, Burkly, L.C, Berning, J.D, Baumgartner, R.E, Cruzata, F, Patterson, N.B, Harlan, D.M, Kirk, A.D

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Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency von STEEN, C, BAUMGARTNER, E. R, DURAN, M, LEHNERT, W, SUORMALA, T, FINGERHUT, R, STEHN, M, KOHLSCHÜTTER, A

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Treatment with the humanized CD154-specific monoclonal antibody, hu5C8, prevents acute rejection of primary skin allografts in nonhuman primates von ELSTER, Eric A, HE XU, KIRK, Allan D, TADAKI, Douglas K, MONTGOMERY, Sean, BURKLY, Linda C, BERNING, Justin D, BAUMGARTNER, Roxanne E, CRUZATA, Frank, MARX, Richard, HARLAN, David M

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