Publications by authors named "Matthias Gautschi"

34Publications

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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April 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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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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September 2018

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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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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April 2017

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

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.

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August 2016

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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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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October 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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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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March 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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June 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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January 2015