Matthias Gautschi

Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study.

Orphanet J Rare Dis 2020 11 23;15(1):328. Epub 2020 Nov 23.

Orphazyme A/S, Copenhagen, Denmark.

November 2020

Galactokinase deficiency: lessons from the GalNet registry.

Genet Med 2021 Jan 18;23(1):202-210. Epub 2020 Aug 18.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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January 2021

Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Genet Med 2020 05 6;22(5):908-916. Epub 2020 Jan 6.

Section of Metabolic Diseases, University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Groningen, The Netherlands.

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May 2020

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

Authors:

Nathalie Kaiser Matthias Gautschi Lenka Bosanska Fabian Meienberg Matthias R Baumgartner Giatgen A Spinas Michel Hochuli

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.

Authors:

Mirjam Korner Sonja Kälin Antoinette Zweifel-Zehnder Niklaus Fankhauser Jean-Marc Nuoffer Matthias Gautschi

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

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

Authors:

Martina Huemer Daria Diodato Diego Martinelli Giorgia Olivieri Henk Blom Florian Gleich Stefan Kölker Viktor Kožich Andrew A Morris Burkhardt Seifert D Sean Froese Matthias R Baumgartner Carlo Dionisi-Vici Carlos Alcalde Martin Martina Baethmann Diana Ballhausen Javier Blasco-Alonso Nikolas Boy Maria Bueno Rosa Burgos Peláez Roberto Cerone Brigitte Chabrol Kimberly A Chapman Maria Luz Couce Ellen Crushell Jaime Dalmau Serra Luisa Diogo Can Ficicioglu Maria Concepcion García Jimenez Maria Teresa García Silva Ana Maria Gaspar Matthias Gautschi Domingo González-Lamuño Sofia Gouveia Stephanie Grünewald Chris Hendriksz Mirian C H Janssen Pavel Jesina Johannes Koch Vassiliki Konstantopoulou Christian Lavigne Allan M Lund Esmeralda G Martins Silvia Meavilla Olivas Karine Mention Fanny Mochel Helen Mundy Elaine Murphy Stephanie Paquay Consuelo Pedrón-Giner Maria Angeles Ruiz Gómez Saikat Santra Manuel Schiff Ida Vanessa Schwartz Sabine Scholl-Bürgi Aude Servais Anastasia Skouma Christel Tran Inmaculada Vives Piñera John Walter James Weisfeld-Adams

J Inherit Metab Dis 2019 03 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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March 2019

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

Authors:

Thorsten Hornemann Irina Alecu Niels Hagenbuch Assem Zhakupova Alessio Cremonesi Matthias Gautschi Hans H Jung Fabian Meienberg Stefan Bilz Emanuel Christ Matthias R Baumgartner Michel Hochuli

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.

Authors:

Shaukat A Khan Hira Peracha Diana Ballhausen Alfred Wiesbauer Marianne Rohrbach Matthias Gautschi Robert W Mason Roberto Giugliani Yasuyuki Suzuki Kenji E Orii Tadao Orii Shunji Tomatsu

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

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

Authors:

Britt van Erven Gerard T Berry David Cassiman Geraldine Connolly Maria Forga Matthias Gautschi Cynthia S Gubbels Carla E M Hollak Mirian C Janssen Ina Knerr Philippe Labrune Janneke G Langendonk Katrin Õunap Abel Thijs Rein Vos Saskia B Wortmann M Estela Rubio-Gozalbo

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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July 2017

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

Authors:

Lindsey Welling Susan E Waisbren Kevin M Antshel Hugh-Owen Colhoun Matthias Gautschi Stephanie Grünewald Rebecca Holman Johanna H van der Lee Eileen P Treacy Annet M Bosch

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

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

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.

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March 2017

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

Authors:

Alexander Laemmle Renata C Gallagher Adrian Keogh Tamar Stricker Matthias Gautschi Jean-Marc Nuoffer Matthias R Baumgartner Johannes Häberle

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.

Authors:

Chiara Arrizza Andrea De Gottardi Ezio Foglia Matthias Baumgartner Matthias Gautschi Jean-Marc Nuoffer

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.

Authors:

Luca Cioccari Matthias Gautschi Reto Etter Anja Weck Jukka Takala

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.

Authors:

Glynis Klinke Marianne Rohrbach Roberto Giugliani Patricie Burda Matthias R Baumgartner Christel Tran Matthias Gautschi Déborah Mathis Martin Hersberger

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.

Authors:

Alexander Laemmle Dagmar Hahn Liyan Hu Véronique Rüfenacht Matthias Gautschi Kurt Leibundgut Jean-Marc Nuoffer Johannes Häberle

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.

Authors:

Sabrina Pers Matthias Gautschi Jean-Marc Nuoffer Hans-Peter Schwarz Emanuel Christ

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.

Authors:

Matthias Gautschi Christian Weisstanner Johannes Slotboom Esmeralda Nava Theres Zürcher Jean-Marc Nuoffer

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