Matthias R. Baumgartner

University of Zurich — Switzerland

Biochemistry, Genetics and Molecular Biology · Life Sciences

62h-index13.3kcitations333works1.22yr avg
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Research Topics

Metabolism and Genetic Disorders(193), Folate and B Vitamins Research(97), Mitochondrial Function and Pathology(63), Porphyrin Metabolism and Disorders(34), Neonatal Health and Biochemistry(33)

Publications333 total

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life
Nutrients·2025Open Access
Healthcare resource allocation for rare diseases: an exploratory survey of Swiss citizens’ preferences
Swiss Medical Weekly·2025Open Access
516PNewborn screening for spinal muscular atrophy: first anniversary in Switzerland
Neuromuscular Disorders·2025
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications
Genetics in Medicine·2025
[Maple syrup urine disease decompensation - rare but life-threatening].
PubMed·2025
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
Communications Biology·2025· 6 citedOpen Access
Exploring network relations between healthcare access and utilisation in individuals with rare diseases
Public Health in Practice·2025Open Access
Cystathionine β‐Synthase Deficiency in the E‐<scp>HOD</scp> Registry—Part <scp>II</scp>: Dietary and Pharmacological Treatment
Journal of Inherited Metabolic Disease·2025· 3 citedOpen Access
Paediatric Personalized Research Network Switzerland (SwissPedHealth): a joint paediatric national data stream
BMJ Open·2024Open Access
Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland
International Journal of Public Health·2024· 3 citedOpen Access
Latent profiles and predictors of barriers to care in Swiss children and adolescents with rare diseases
Journal of Pediatric Psychology·2024· 2 citedOpen Access
Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor
Free Radical Biology and Medicine·2024· 2 citedOpen Access
Paediatric Personalized Research Network Switzerland (SwissPedHealth): A Joint Paediatric National Data Stream
2024Open Access
The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear
International Journal of Neonatal Screening·2024· 1 citedOpen Access
Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria
2024Open Access
<scp>Non‐Hodgkin</scp> lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression
JIMD Reports·2024· 2 citedOpen Access
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders
Molecular Genetics and Metabolism·2023· 5 citedOpen Access
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Genetics in Medicine·2023· 9 citedOpen Access
The Swiss Rare Disease Registry: A National Research Platform
2023Open Access
Risk and potential of ChatGPT in scientific publishing
Journal of Inherited Metabolic Disease·2023· 8 citedOpen Access
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Frequent Co-authors

Brian Fowler(15), Terttu Suormala(14), Daniela Karall(11), Martina Huemer(8), Stefan Kölker(8), Alberto Burlina(7), Sarah C. Grünert(7), Sabine Scholl‐Bürgi(7), Frits A. Wijburg(7), David S. Rosenblatt(7), Carlo Dionisi‐Vici(6), Barbara Plecko(6), David Coelho(6), Martin Lindner(6), René Santer(6), Karl Otfried Schwab(6), Kimberly A. Chapman(5), Stephanie Grünewald(5), Diego Martinelli(5), D. Sean Froese(5)