Matthias R Baumgartner
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Explore the profile of Matthias R Baumgartner including associated specialties, affiliations and a list of published articles.
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134
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3361
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Recent Articles
1.
Denley M, Straub M, Marcionelli G, Gura M, Penton D, Delvendahl I, et al.
Commun Biol
. 2025 Mar;
8(1):410.
PMID: 40069408
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA...
2.
Mozun R, Belle F, Agostini A, Baumgartner M, Fellay J, Forrest C, et al.
BMJ Open
. 2024 Dec;
14(12):e091884.
PMID: 39725440
Introduction: Children represent a large and vulnerable patient group. However, the evidence base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is...
3.
Wehrli S, Dwyer A, Baumgartner M, Lehmann C, Landolt M
Int J Public Health
. 2024 Oct;
69:1607548.
PMID: 39386998
Objectives: This study aims to determine clusters of access to healthcare among adults with rare diseases in Switzerland, identify associated individual characteristics of access, and impact on health-related quality of...
4.
Wehrli S, Baumgartner M, Dwyer A, Landolt M
J Pediatr Psychol
. 2024 Sep;
49(11):827-839.
PMID: 39315918
Objective: Children and adolescents with rare diseases face significant barriers when accessing healthcare. We aimed to assess and predict these barriers and investigate associations with health-related quality of life (HRQoL)....
5.
Myszkowska J, Klotz K, Leandro P, Kruger W, Froese D, Baumgartner M, et al.
Free Radic Biol Med
. 2024 Jul;
223:281-295.
PMID: 39067625
Classical homocystinuria is a rare disease caused by mutations in cystathionine β-synthase (CBS) gene (OMIM 613381). CBS catalyzes the first step of the transsulfuration pathway that converts homocysteine (Hcy) into...
6.
Knopfli S, Goeschl B, Zeyda M, Baghdasaryan A, Baumgartner-Kaut M, Baumgartner M, et al.
Int J Neonatal Screen
. 2024 Jun;
10(2).
PMID: 38920847
Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D....
7.
Burlina A, Burlina A, Mignani R, Cazzorla C, Gueraldi D, Puma A, et al.
JIMD Rep
. 2024 Mar;
65(2):56-62.
PMID: 38444575
Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor of methylmalonyl-CoA mutase. It presents...
8.
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, et al.
Hum Mol Genet
. 2023 Jun;
32(17):2717-2734.
PMID: 37369025
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy-producing pathways. To better understand global responses to energy shortage, we investigated a...
9.
Kolker S, Baumgartner M
J Inherit Metab Dis
. 2023 Apr;
46(3):369-370.
PMID: 37073867
No abstract available.
10.
Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, et al.
Nat Metab
. 2023 Jan;
5(1):80-95.
PMID: 36717752
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-layered...