Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut- , cblA, cblB)
HÖRSTER, Friederike, BAUMGARTNER, Matthias R, VIARDOT, Caroline, SUORMALA, Terttu, BURGARD, Peter, FOWLER, Brian, HOFFMANN, Georg F, GARBADE, Sven F, KOLKER, Stefan, BAUMGARTNER, E. Regula
Published in Pediatric research (01.08.2007)
Published in Pediatric research (01.08.2007)
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Journal Article
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening
Weber, Peter, Scholl, Sabine, Baumgartner, E Regula
Published in Developmental medicine and child neurology (01.07.2004)
Published in Developmental medicine and child neurology (01.07.2004)
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Journal Article
Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation
Maj, Mary C, MacKay, Neviana, Levandovskiy, Valeriy, Addis, Jane, Baumgartner, E. Regula, Baumgartner, Matthias R, Robinson, Brian H, Cameron, Jessie M
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
Published in The journal of clinical endocrinology and metabolism (01.07.2005)
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Journal Article
Mutation and biochemical analysis of 19 probands with mut and 13 with mut methylmalonic aciduria: Identification of seven novel mutations
Lempp, Thomas J, Suormala, Terttu, Siegenthaler, Renate, Baumgartner, E Regula, Fowler, Brian, Steinmann, Beat, Baumgartner, Matthias R
Published in Molecular genetics and metabolism (01.03.2007)
Published in Molecular genetics and metabolism (01.03.2007)
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Journal Article
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency
AOKI, Y, XUE LI, NARISAWA, K, SAKAMOTO, O, HIRATSUKA, M, AKAISHI, H, LIQUING XU, BRIONES, P, SUORMALA, T, REGULA BAUMGARTNER, E, SUZUKI, Y
Published in Human genetics (01.02.1999)
Published in Human genetics (01.02.1999)
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Journal Article
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency
Baumgartner, M R, Almashanu, S, Suormala, T, Obie, C, Cole, R N, Packman, S, Baumgartner, E R, Valle, D
Published in The Journal of clinical investigation (15.02.2001)
Published in The Journal of clinical investigation (15.02.2001)
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Journal Article
Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy
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
Published in American journal of human genetics (01.11.2004)
Published in American journal of human genetics (01.11.2004)
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Journal Article
Severe Holocarboxylase Synthetase Deficiency with Incomplete Biotin Responsiveness Resulting in Antenatal Insult in Samoan Neonates
Wilson, Callum J., Myer, Michael, Darlow, Brian A., Stanley, Thorsten, Thomson, Glen, Baumgartner, E. Regula, Kirby, Denise M., Thorburn, David R.
Published in The Journal of pediatrics (01.07.2005)
Published in The Journal of pediatrics (01.07.2005)
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Journal Article
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations
Lempp, Thomas J, Suormala, Terttu, Siegenthaler, Renate, Baumgartner, E Regula, Fowler, Brian, Steinmann, Beat, Baumgartner, Matthias R
Published in Molecular genetics and metabolism (01.03.2007)
Published in Molecular genetics and metabolism (01.03.2007)
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Journal Article
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
MÖSLINGER, Dorothea, STÖCKLER-IPSIROGLU, Sylvia, SCHEIBENREITER, Susanne, TIEFENTHALER, Monika, MÜHL, Adolf, SEIDL, Rainer, STROBL, Wolfgang, PLECKO, Barbara, SUORMALA, Terttu, BAUMGARTNER, E. Regula
Published in European journal of pediatrics (01.05.2001)
Published in European journal of pediatrics (01.05.2001)
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Journal Article
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency
SAKAMOTO, O, SUZUKI, Y, XUE LI, AOKI, Y, HIRATSUKA, M, SUORMALA, T, BAUMGARTNER, E. R, GIBSON, K. M, NARISAWA, K
Published in Pediatric research (01.12.1999)
Published in Pediatric research (01.12.1999)
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Journal Article
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency
DODELSON DE KREMER, Raquel, LATINI, Alexandra, SUORMALA, Terttu, BAUMGARTNER, E. Regula, LAROVERE, Laura, CIVALLERO, Gabriel, GUELBERT, Norberto, PASCHINI-CAPRA, Ana, DEPETRIS-BOLDINI, Catalina, QUIROGA MAYOR, Carlos
Published in Metabolic brain disease (01.03.2002)
Published in Metabolic brain disease (01.03.2002)
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Journal Article
Biotin-dependent carboxylase activities in different CNS and skin-derived cells, and their sensitivity to biotin-depletion
Suormala, Terttu, Wiesmann, Ulrich N, Cruz, Fatima, Wolf, Armin, Daschner, Markus, Limat, Alain, Fowler, Brian, Baumgartner, E Regula
Published in International journal for vitamin and nutrition research (01.07.2002)
Published in International journal for vitamin and nutrition research (01.07.2002)
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Journal Article
3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father
VISSER, Gepke, SUORMALA, Terttu, SMIT, G. Peter A, REIJNGOUD, Dirk-Jan, BINK-BOELKENS, Margreet Th. E, NIEZEN-KONING, Klary E, BAUMGARTNER, E. Regula
Published in European journal of pediatrics (01.12.2000)
Published in European journal of pediatrics (01.12.2000)
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Journal Article
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy
Van Hove, Johan L K, Van Damme-Lombaerts, Rita, Grünewald, Stephanie, Peters, Heidi, Van Damme, Boudewijn, Fryns, Jean-Pierre, Arnout, Jozef, Wevers, Ron, Baumgartner, E Regula, Fowler, Brian
Published in American journal of medical genetics (01.08.2002)
Published in American journal of medical genetics (01.08.2002)
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