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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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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Biocytin and biotin uptake into NB2a neuroblastoma and C6 astrocytoma cells von Baur, Barbara, Suormala, Terttu, Baumgartner, E.Regula

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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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Biotinidase determination in serum and dried blood spots—high sensitivity fluorimetric ultramicro-assay von Broda, Elke, Baumgartner, E.Regula, Scholl, Sabine, Stopsack, Marina, Horn, Anton, Rhode, Heidrun

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Mutation Analysis of the MCM Gene in Israeli Patients with mut0 Disease von Berger, Itai, Shaag, Avraham, Anikster, Yair, Baumgartner, E.Regula, Bar-Meir, Maskit, Joseph, Adina, Elpeleg, Orly N.

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Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia von NANAO, K, OKAMURA-IKEDA, K, MOTOKAWA, Y, DANKS, D. M, BAUMGARTNER, E. R, TAKADA, G, HAYASAKA, K

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Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample von Suormala, Terttu, Wick, Hugo, Bonjour, Jean-Pierre, Baumgartner, E.Regula

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