Author

Matthias Gautschi

Observed names: Gautschi Matthias, Gautschi, Matthias, Gautschi, Matthias; https://orcid.org/0000-0003-1358-1759, M. Gautschi, MATTHIAS GAUTSCHI

Observed institutions: University of Bern, Royal Free London NHS Foundation Trust, Justus-Liebig-Universität Gießen, Charles University, University of Münster, University Hospital of Bern, University of Manchester, University Children’s Hospital Bern, Royal Manchester Children's Hospital, University College London, Ludwig-Maximilians-Universität München, University of Lausanne

ORCID: 0000-0003-1358-1759

Observed ORCID: 0000-0003-1358-1759

OpenAlex ID: A5069170495

Epidemiology of mucopolysaccharidoses

2017 · Shaukat A. Khan, Hira Peracha, et al. · Molecular Genetics and Metabolism · 1,095

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

2016 · Lindsey Welling, Laurie E. Bernstein, et al. · Journal of Inherited Metabolic Disease · 194

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The natural history of classic galactosemia: lessons from the GalNet registry

2019 · M. E. Rubio-Gozalbo, M. Haskovic, et al. · Orphanet Journal of Rare Diseases · 148

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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

2014 · Sebene Mayorandan, Uta Meyer, et al. · Orphanet Journal of Rare Diseases · 133

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Trial of N -Acetyl- l -Leucine in Niemann–Pick Disease Type C

2024 · Tatiana Bremova-Ertl, Uma Ramaswami, et al. · New England Journal of Medicine · 103

Efficacy and safety of arimoclomol in Niemann‐Pick disease type C: Results from a double‐blind, randomised, placebo‐controlled, multinational phase 2/3 trial of a novel treatment

2021 · Eugen Mengel, Marc C. Patterson, et al. · Journal of Inherited Metabolic Disease · 101

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

2013 · Christopher Benjamin Jackson, Jean-Marc Nuoffer, et al. · Journal of Medical Genetics · 84

Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

2013 · Corinne M. Rüegger, Martin Lindner, et al. · Journal of Inherited Metabolic Disease · 78

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

2019 · Martina Huemer, Daria Diodato, et al. · Journal of Inherited Metabolic Disease · 77

Fertility in adult women with classic galactosemia and primary ovarian insufficiency

2017 · Britt van Erven, Gerard T. Berry, et al. · Fertility and Sterility · 63

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

2015 · Glynis Klinke, Marianne Rohrbach, et al. · Clinical Biochemistry · 55

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

2016 · Alexander Laemmle, Renata C. Gallagher, et al. · PLoS ONE · 54

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

2019 · Nathalie Kaiser, Matthias Gautschi, et al. · Molecular Genetics and Metabolism · 50

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

2015 · Chiara Arrizza, Andrea De Gottardi, et al. · Transplant International · 45

Fatal Myocardial Infarction at 4.5 Years in a Case of Homozygous Familial Hypercholesterolaemia

2011 · Matthias Gautschi, Mladen Pavlovic, et al. · JIMD Reports · 39

Efficacy and Safety of Secukinumab for the Treatment of Severe ABCA12 Deficiency-Related Ichthyosis in a Child

2021 · J. Yogarajah, C. Gouveia, et al. · Skin Health and Disease · 35

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

2020 · Willemijn J. van Rijt, Emmalie A. Jager, et al. · Genetics in Medicine · 35

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Basilar artery stroke in childhood

2012 · BARBARA GOEGGEL SIMONETTI, BARBARA RITTER, et al. · Developmental Medicine & Child Neurology · 34

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

2020 · Eugen Mengel, Bruno Bembi, et al. · Orphanet Journal of Rare Diseases · 27

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

2017 · Lindsey Welling, Susan E. Waisbren, et al. · JIMD Reports · 26

Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin

2014 · Matthias Gautschi, Laura Merlini, et al. · European Journal of Paediatric Neurology · 26

Galactokinase deficiency: lessons from the GalNet registry

2020 · M. Estela Rubio-Gozalbo, Britt Derks, et al. · Genetics in Medicine · 25

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

2014 · Matthias Gautschi, Christian Weisstanner, et al. · Pediatric Research · 23

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

2021 · Tamara Mathis, Martin Poms, et al. · Journal of Inherited Metabolic Disease · 22

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

2019 · Mirjam Korner, Sonja Kälin, et al. · Orphanet Journal of Rare Diseases · 19

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Works count: 132

Citation count: 2,846

H-index: 23

I10-index: 36