Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY

Por Stucki, Martin, Suormala, Terttu, Fowler, Brian, Valle, David, Baumgartner, Matthias R.
Publicado em 2009

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism – a systematic review

Por Zeltner, Nina A, Huemer, Martina, Baumgartner, Matthias R, Landolt, Markus A
Publicado no Orphanet J Rare Dis (2014)

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency

Por Forny, Patrick, Froese, D. Sean, Suormala, Terttu, Yue, Wyatt W., Baumgartner, Matthias R.
Publicado no Hum Mutat (2014)

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

Por Lindert, Uschi, Kraenzlin, Marius, Campos-Xavier, Ana Belinda, Baumgartner, Matthias R., Bonafé, Luisa, Giunta, Cecilia, Rohrbach, Marianne
Publicado no Orphanet J Rare Dis (2015)

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Por Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Publicado no J Inherit Metab Dis (2015)

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Por Baumgartner, Matthias R., Almashanu, Shlomo, Suormala, Terttu, Obie, Cassandra, Cole, Robert N., Packman, Seymour, Baumgartner, E. Regula, Valle, David
Publicado em 2001

Successful intrauterine treatment of a patient with cobalamin C defect

Por Trefz, Friedrich K., Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R.
Publicado no Mol Genet Metab Rep (2016)

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)

Por Laemmle, Alexander, Gallagher, Renata C., Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R., Häberle, Johannes
Publicado no PLoS One (2016)

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Por Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela
Publicado no Orphanet J Rare Dis (2014)

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD

Por Shepard, Peter J., Barshop, Bruce A., Baumgartner, Matthias R., Hansen, John-Bjarne, Jepsen, Kristen, Smith, Erin N., Frazer, Kelly A.
Publicado no Genet Med (2014)

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium

Por Kölker, Stefan, Dobbelaere, Dries, Häberle, Johannes, Burgard, Peter, Gleich, Florian, Summar, Marshall L., Hannigan, Steven, Parker, Samantha, Chakrapani, Anupam, Baumgartner, Matthias R.
Publicado no JIMD Rep (2015)

Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy

Por 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
Publicado em 2004

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects

Por Ferriero, Rosa, Boutron, Audrey, Brivet, Michele, Kerr, Douglas, Morava, Eva, Rodenburg, Richard J, Bonafé, Luisa, Baumgartner, Matthias R, Anikster, Yair, Braverman, Nancy E, Brunetti-Pierri, Nicola
Publicado em 2014

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

Por Zeltner, Nina A., Landolt, Markus A., Baumgartner, Matthias R., Lageder, Sarah, Quitmann, Julia, Sommer, Rachel, Karall, Daniela, Mühlhausen, Chris, Schlune, Andrea, Scholl-Bürgi, Sabine, Huemer, Martina
Publicado no JIMD Rep (2016)

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B(12) Trafficking

Por Froese, D. Sean, Kopec, Jolanta, Fitzpatrick, Fiona, Schuller, Marion, McCorvie, Thomas J., Chalk, Rod, Plessl, Tanja, Fettelschoss, Victoria, Fowler, Brian, Baumgartner, Matthias R., Yue, Wyatt W.
Publicado no J Biol Chem (2015)

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Por Grünert Sarah C, Stucki Martin, Morscher Raphael J, Suormala Terttu, Bürer Celine, Burda Patricie, Christensen Ernst, Ficicioglu Can, Herwig Jürgen, Kölker Stefan, Möslinger Dorothea, Pasquini Elisabetta, Santer René, Schwab K, Wilcken Bridget, Fowler Brian, Yue Wyatt W, Baumgartner Matthias R
Publicado em 2012-05-01

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

Por Grünert, Sarah C, Stucki, Martin, Morscher, Raphael J, Suormala, Terttu, Bürer, Celine, Burda, Patricie, Christensen, Ernst, Ficicioglu, Can, Herwig, Jürgen, Kölker, Stefan, Möslinger, Dorothea, Pasquini, Elisabetta, Santer, René, Schwab, K Otfried, Wilcken, Bridget, Fowler, Brian, Yue, Wyatt W, Baumgartner, Matthias R
Publicado em 2012

Genetic basis of hyperlysinemia

Por Houten, Sander M, te Brinke, Heleen, Denis, Simone, Ruiter, Jos PN, Knegt, Alida C, de Klerk, Johannis BC, Augoustides-Savvopoulou, Persephone, Häberle, Johannes, Baumgartner, Matthias R, Coşkun, Turgay, Zschocke, Johannes, Sass, Jörn Oliver, Poll-The, Bwee Tien, Wanders, Ronald JA, Duran, Marinus
Publicado em 2013

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect

Por Forny, Patrick, Schumann, Anke, Mustedanagic, Merima, Mathis, Déborah, Wulf, Marie-Angela, Nägele, Nadine, Langhans, Claus-Dieter, Zhakupova, Assem, Heeren, Joerg, Scheja, Ludger, Fingerhut, Ralph, Peters, Heidi L., Hornemann, Thorsten, Thony, Beat, Kölker, Stefan, Burda, Patricie, Froese, D. Sean, Devuyst, Olivier, Baumgartner, Matthias R.
Publicado no J Biol Chem (2016)

Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

Por Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger
Publicado em 2012