Matthias Gautschi

Matthias Gautschi

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Matthias Gautschi

Matthias Gautschi

Publications by authors named "Matthias Gautschi"

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Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.

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:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193003
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http://dx.doi.org/10.1016/j.ymgme.2019.02.008DOI Listing
April 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

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.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

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

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

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http://dx.doi.org/10.1186/s13023-019-0999-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390315PMC
February 2019

Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.

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:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.003DOI Listing
September 2018

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

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:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

Epidemiology of mucopolysaccharidoses.

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:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653283PMC
July 2017

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

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.

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http://dx.doi.org/10.1007/8904_2017_22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740047PMC
April 2017

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

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

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

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http://doi.wiley.com/10.1111/tri.12677
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http://dx.doi.org/10.1111/tri.12677DOI Listing
December 2015

Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy.

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.

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http://dx.doi.org/10.1097/CCM.0000000000001151DOI Listing
October 2015

Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in 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.

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http://dx.doi.org/10.4414/smw.2014.14074DOI Listing
June 2015

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

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:

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http://dx.doi.org/10.1016/j.clinbiochem.2015.03.007DOI Listing
June 2015

Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation.

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:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192150002
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http://dx.doi.org/10.1016/j.ymgme.2015.01.002DOI Listing
March 2015

Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy.

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.

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http://www.nature.com/articles/pr2014154
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http://dx.doi.org/10.1038/pr.2014.154DOI Listing
January 2015

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

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.

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http://dx.doi.org/10.1136/jmedgenet-2013-101932DOI Listing
March 2014

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia.

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,

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http://dx.doi.org/10.1007/8904_2011_45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509839PMC
February 2013

Basilar artery stroke in childhood.

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.

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http://dx.doi.org/10.1111/dmcn.12015DOI Listing
January 2013

Botulinum toxin type A for the treatment of equinus deformity in patients with mucopolysaccharidosis type II.

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

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

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http://journals.sagepub.com/doi/10.1177/0883073812438100
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http://dx.doi.org/10.1177/0883073812438100DOI Listing
December 2012

Folding, quality control, and secretion of pancreatic ribonuclease in live cells.

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

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

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http://www.jbc.org/lookup/doi/10.1074/jbc.M110.171694
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http://dx.doi.org/10.1074/jbc.M110.171694DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3037694PMC
February 2011

Bulk flow revisited: transport of a soluble protein in the secretory pathway.

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.

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http://dx.doi.org/10.1111/j.1600-0854.2009.00989.xDOI Listing
December 2009

Selection against glycosylation in ruminant pancreatic ribonucleases by replacements in the ancestral carbohydrate attachment site.

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.

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http://dx.doi.org/10.1007/s10528-008-9162-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2480611PMC
August 2008

Functional characterization of the atypical Hsp70 subunit of yeast ribosome-associated complex.

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.

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http://dx.doi.org/10.1074/jbc.M706737200DOI Listing
November 2007

Neuronal death in the lateral geniculate nucleus of young ferrets following a cortical lesion: time-course, age dependence and involvement of caspases.

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.

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http://linkinghub.elsevier.com/retrieve/pii/S000689930701266
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http://dx.doi.org/10.1016/j.brainres.2007.05.063DOI Listing
September 2007

More than one glycan is needed for ER glucosidase II to allow entry of glycoproteins into the calnexin/calreticulin cycle.

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

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

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http://linkinghub.elsevier.com/retrieve/pii/S109727650501384
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http://dx.doi.org/10.1016/j.molcel.2005.05.029DOI Listing
July 2005

The Hsp70 Ssz1 modulates the function of the ribosome-associated J-protein Zuo1.

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.

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http://dx.doi.org/10.1038/nsmb942DOI Listing
June 2005

A functional chaperone triad on the yeast ribosome.

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.

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http://dx.doi.org/10.1073/pnas.062048599DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC123627PMC
April 2002