Matthias R. Baumgartner - Dissemin

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Papers authored by Matthias R. Baumgartner

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2015 Eva Morava, Shamima Rahman, Verena Peters, Matthias R. Baumgartner

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, Marc Patterson

ORCID

, Johannes Zschocke

ORCID

Quo vadis: the re-definition of "inborn metabolic diseases"

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Chiara Arrizza, Andrea De Gottardi

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, Ezio Foglia, Matthias Baumgartner

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, Matthias Gautschi

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, Jean-Marc Nuoffer

Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up

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Uschi Lindert, Marius Kraenzlin, Ana Belinda Campos-Xavier, Matthias R. Baumgartner

ORCID

, Luisa Bonafé, Cecilia Giunta, Marianne Rohrbach

ORCID

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta

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Emanuel Christ

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, Michel Hochuli, Roger Lehmann, Fabian Meienberg, Matthias R. Baumgartner

ORCID

, Jan Krützfeldt

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

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Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska

ORCID

, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Jean-Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner

ORCID

, Javier Blasco-Alonso, S. P. Nikolas Boy and 43 other authors

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

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Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund

ORCID

, Alberto B. Burlina, Jolanta Sykut-Cegielska

ORCID

, Frits A. Wijburg, Elisa Leão Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Persephone Augoustides-Savvopoulou, Lise Aksglaede

ORCID

, Jean-Baptiste Arnoux and 41 other authors

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

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Martina Huemer

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, Regina Mulder-Bleile, Patricie Burda, D. Sean Froese, D. Sean Froese

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, Terttu Suormala, Bruria Ben Zeev, Patrick F. Chinnery, Carlo Dionisi-Vici, Dries Dobbelaere, Gülden Gökcay, Mübeccel Demirkol, Johannes Häberle, Alexander Lossos, Eugen Mengel and 21 other authors

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

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Patricie Burda, Alexandra Schäfer, Terttu Suormala, Till Rummel, Céline Bürer, Dorothea Heuberger, Michele Frapolli, Cecilia Giunta, Jitka Sokolová, Hana Vlášková, Viktor Kožich, Hans Georg Koch, Brian Fowler, D. Sean Froese

ORCID

, Matthias R. Baumgartner

ORCID

Insights into Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

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Jens C. Koenig, Frank Rutsch, Clemens Bockmeyer, Matthias Baumgartner

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, Bodo B. Beck, Brigitta Kranz, Martin Konrad

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency

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Bruno Palhais, Veronica S. Præstegaard, Rugivan Sabaratnam, Thomas Koed Doktor

ORCID

, Seraina Lutz, Patricie Burda, Terttu Suormala, Matthias Baumgartner

ORCID

, Brian Fowler, Gitte Hoffmann Bruun, Henriette Skovgaard Andersen, V. Ko ich, Viktor Kožich, Brage Storstein Andresen

ORCID

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells

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Stefan Kölker, Vassili Valayannopoulos, Alberto B. Burlina, Jolanta Sykut-Cegielska

ORCID

, A. B., Frits A. Wijburg, Elisa Leão Teles, F. A., Jiri Zeman, Carlo Dionisi-Vici, Ivo Barić, Daniela Karall, Jean-Baptiste Arnoux, Paula Avram, Matthias R. Baumgartner

ORCID

and 57 other authors

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: The evolving clinical phenotype

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Glynis Klinke, Marianne Rohrbach

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, Roberto Giugliani, Patricie Burda, Matthias R. Baumgartner

ORCID

, Christel Tran, Matthias Gautschi

ORCID

, Déborah Mathis, Martin Hersberger

LC-MS/MS Based Assay and Reference Intervals in Children and Adolescents for Oxysterols Elevated in Niemann-Pick Diseases.

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Martina Huemer

ORCID

, Viktor Kožich, Piero Rinaldo, Matthias R. Baumgartner

ORCID

, Begoña Merinero, Elisabetta Pasquini, Antonia Ribes, Henk J. Blom

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

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P. Burda, A. Kuster, O. Hjalmarson, T. Suormala, C. Bürer, S. Lutz, G. Roussey, L. Christa, J. Asin-Cayuela, G. Kollberg, B. A. Andersson, D. Watkins, D. S. Rosenblatt, B. Fowler, E. Holme and 2 other authors

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment

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Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund

ORCID

, Alberto B. Burlina, Jolanta Sykut-Cegielska

ORCID

, Fa Wijburg, El Teles, Jiri Zeman, Carlo Dionisi-Vici, Ivo Baric, Daniela Karall, Persephone Augoustides-Savvopoulou, Jb Arnoux, Lise Aksglaede

ORCID

and 48 other authors

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

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2014 M. Huemer

ORCID

, C. Bürer, P. Ješina, V. Kožich, M. A. Landolt, T. Suormala, B. Fowler, P. Augoustides Savvopoulou, E. Blair, K. Brennerova, A. Broomfield, L. De Meirleir, G. Gökcay, J. Hennermann, P. Jardine and 12 other authors

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

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Jean-Marie Saudubray, Matthias R. Baumgartner

ORCID

, Ronald Wanders

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Nina A. Zeltner, Martina Huemer

ORCID

, Matthias R. Baumgartner

ORCID

, Markus A. Landolt

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

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Matthias R. Baumgartner

ORCID

, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Kimberly A. Chapman, Daniela Karall, Murielle Assoun, Michel Hochuli, Martina Huemer

ORCID

, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomas Honzik and 10 other authors

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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Rosa Ferriero, Audrey Boutron, Michele Brivet, Douglas Kerr, Eva Morava, Richard J. T. Rodenburg

ORCID

, Luisa Bonafé, Matthias R. Baumgartner

ORCID

, Yair Anikster, Nancy E. Braverman, Nicola Brunetti-Pierri

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

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