Matthias R. Baumgartner

University of Zurich

Switzerland

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Articles (15)

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2025

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2025

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2025

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2025

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2024

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2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2022

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2022

Collaborators (20)

Florian Gleich

University Hospital Heidelberg

GERMANY

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Verena Peters

GERMANY

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Allan Lund

Professor of Paediatics

University of Copenhagen

DENMARK

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Chris Mühlhausen

Vice Director and Professor of Pediatrics

Universitätsmedizin Göttingen

GERMANY

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Nicola Zamboni

Adj. Prof.

ETH Zürich

SWITZERLAND

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Jitka Sokolová

Všeobecná Fakultní Nemocnice v Praze

CZECH REPUBLIC

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Nikola Biller-Andorno

University of Zurich

SWITZERLAND

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Patrick Forny

University of Zurich

SWITZERLAND

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Janine Reichenbach

Head Division of Somatic Gene Therapy

University Children's Hospital Zurich

SWITZERLAND

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Stefan Kölker

GERMANY

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Andrew Dwyer

Boston College

UNITED STATES

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Raphael Johannes Morscher

University of Zurich

SWITZERLAND

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Nikolas Boy

GERMANY

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Markus Landolt

University of Zurich

SWITZERLAND

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Viktor Kožich

Professor of Medical Genetics

Charles University

CZECH REPUBLIC

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Jean-Marc Nuoffer

SWITZERLAND

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Diana Ballhausen

Head of pediatric metabolic unit

Lausanne University Hospital

SWITZERLAND

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Johannes Zschocke

Professor of Human Genetics

Medical University of Innsbruck

AUSTRIA

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Sarah Cherkaoui

University Children's Hospital Zurich

SWITZERLAND

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Federico Germani

University of Zurich

SWITZERLAND

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Matthias R. Baumgartner

Research Interests

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Articles (15)

Exploring network relations between healthcare access and utilisation in individuals with rare diseases

Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological Treatment

Healthcare resource allocation for rare diseases: an exploratory survey of Swiss citizens’ preferences

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria

Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency

Guidelines in the JIMD: Evidence‐based practice for inherited metabolic disease

How guideline development has informed clinical research for organic acidurias (et vice versa)

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium

Postauthorization safety study of betaine anhydrous

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision

Postauthorization safety study of betaine anhydrous

Collaborators (20)

Florian Gleich

Verena Peters

Allan Lund

Chris Mühlhausen

Nicola Zamboni

Jitka Sokolová

Nikola Biller-Andorno

Patrick Forny

Janine Reichenbach

Stefan Kölker

Andrew Dwyer

Raphael Johannes Morscher

Nikolas Boy

Markus Landolt

Viktor Kožich

Jean-Marc Nuoffer

Diana Ballhausen

Johannes Zschocke

Sarah Cherkaoui

Federico Germani

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