Matthias Gautschi

Mol Genet Metab 2019 04 28;126(4):355-361. Epub 2019 Feb 28.

Department of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland. Electronic address:

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

Orphanet J Rare Dis 2019 02 26;14(1):56. Epub 2019 Feb 26.

Institute of Clinical Chemistry, University Hospital Bern, Inselspital, Bern, Switzerland.

Mol Genet Metab 2018 09 20;125(1-2):73-78. Epub 2018 Jul 20.

Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland; Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland. Electronic address:

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

Mol Genet Metab 2017 07 26;121(3):227-240. Epub 2017 May 26.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

JIMD Rep 2017 9;37:115-123. Epub 2017 Apr 9.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands.

J Inherit Metab Dis 2017 03 17;40(2):171-176. Epub 2016 Nov 17.

Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

PLoS One 2016 12;11(4):e0153358. Epub 2016 Apr 12.

Division of Metabolism and Children`s Research Center (CRC), University Children`s Hospital, Zurich, Switzerland.

Transpl Int 2015 Dec 11;28(12):1447-50. Epub 2015 Sep 11.

Department of Paediatrics, Inselspital, University Hospital Bern, Bern, Switzerland.

Crit Care Med 2015 Oct;43(10):e458-60

1Department of Intensive Care Medicine, Bern University Hospital (Inselspital) and University of Bern, Bern, Switzerland. 2Institute of Clinical Chemistry and University Children's Hospital, Bern University Hospital (Inselspital) and University of Bern, Bern, Switzerland. 3Department of Neurology, Bern University Hospital (Inselspital) and University of Bern, Bern, Switzerland.

Swiss Med Wkly 2014 23;144:w14074. Epub 2014 Dec 23.

Department of Endocrinology, Diabetology and Clinical Nutrition, University Hospital of Bern, Inselspital, Bern, Switzerland.

Clin Biochem 2015 Jun 25;48(9):596-602. Epub 2015 Mar 25.

Division of Clinical Chemistry and Biochemistry, Children's Research Center, University Children's Hospital Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

Mol Genet Metab 2015 Mar 24;114(3):438-44. Epub 2015 Jan 24.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital, Zurich, Switzerland. Electronic address:

Pediatr Res 2015 Jan 7;77(1-1):91-8. Epub 2014 Oct 7.

1] Department of Paediatrics, University Hospital Bern, Inselspital, Bern, Switzerland [2] Institute of Clinical Chemistry, University Hospital Bern, Inselspital, Bern, Switzerland.

Orphanet J Rare Dis 2014 Aug 1;9:107. Epub 2014 Aug 1.

Clinic for Paediatric Kidney-, Liver and Metabolic Diseases, Hannover Medical School, Carl-Neuberg-Str.1, D-30625, Hannover, Germany.

Eur J Paediatr Neurol 2014 Jul 25;18(4):516-9. Epub 2014 Feb 25.

Pediatric Neurology, Geneva Children's Hospital, Switzerland.

J Med Genet 2014 Mar 23;51(3):170-5. Epub 2013 Dec 23.

Division of Human Genetics, Departments of Paediatrics and Clinical Research, University of Bern, Bern, Switzerland.

J Inherit Metab Dis 2014 Jan 19;37(1):21-30. Epub 2013 Jun 19.

Division of Metabolism, University Children's Hospital, Steinwiesstr. 75, 8032, Zurich, Switzerland.

JIMD Rep 2012 6;2:45-50. Epub 2011 Sep 6.

Paediatric Endocrinology, Diabetology and Metabolism, Department of Paediatrics, Inselspital, University of Bern, Room G3 813, Freiburgstrasse, 3010, Bern, Switzerland,

Dev Med Child Neurol 2013 Jan 20;55(1):65-70. Epub 2012 Nov 20.

Division of Paediatric Neurology, Department of Paediatrics, Inselspital, University of Bern, Bern, Switzerland.

J Child Neurol 2012 Dec 20;27(12):1611-5. Epub 2012 Mar 20.

Department of Pediatric Neurology, University Children's Hospital, Berne, Switzerland.

J Biol Chem 2011 Feb 14;286(7):5813-22. Epub 2010 Dec 14.

Institute of Biochemistry, ETH Zürich, 8093 Zürich, Switzerland.

Traffic 2009 Dec 16;10(12):1819-30. Epub 2009 Sep 16.

Institute of Biochemistry, ETH Zürich, HPM 6.3, Schafmattstrasse 18, ETH Hönggerberg, 8093 Zürich, Switzerland.

Biochem Genet 2008 Aug 24;46(7-8):446-50. Epub 2008 Apr 24.

Institute of Molecular Biology and Biophysics, Schafmattstrasse 20, ETH-Hönggerberg, HPKE 14, 8093, Zurich, Switzerland.

J Biol Chem 2007 Nov 27;282(47):33977-84. Epub 2007 Sep 27.

Institute of Biochemistry and Molecular Biology, Zentrum für Biochemie und Molekulare Zellforschung (ZBMZ), University of Freiburg, Herrmann-Herder-Strasse 7, Freiburg, Germany.

Brain Res 2007 Sep 12;1167:20-30. Epub 2007 Jun 12.

Département de Biologie Cellulaire et de Morphologie (DBCM), Université de Lausanne, Rue du Bugnon 9, CH-1005 Lausanne, Switzerland.

Mol Cell 2005 Jul;19(2):183-95

Institute of Biochemistry, Swiss Federal Institute of Technology (ETH) Zurich, Switzerland.

Nat Struct Mol Biol 2005 Jun 22;12(6):497-504. Epub 2005 May 22.

Department of Biochemistry, University of Wisconsin, Madison, Wisconsin 53706, USA.

Mol Cell Biol 2003 Oct;23(20):7403-14

Max Planck Research Unit Enzymology of Protein Folding, D-06120 Halle, Germany.

Proc Natl Acad Sci U S A 2002 Apr;99(7):4209-14

Max-Planck Research Unit Enzymology of Protein Folding, Weinbergweg 22, D-06120 Halle, Saale, Germany.