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T. Hegelmaier

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#edge computing Open access Oct 2026

Pleuroparenchymal fibroelastosis in a monogenic mitochondrial DNA depletion syndrome.

BACKGROUND Pleuroparenchymal fibroelastosis (PPFE) is a rare, most often idiopathic fibrotic lung disease with poor prognosis, mainly affecting adults. Biallelic pathogenic variants in the deoxyguanosine kinase gene (DGUOK) cause a mitochondrial DNA (mtDNA) depletion syndrome, predominantly affecting infants with sever...

S. von Hardenberg, Pia Maier, Leonard Christian et al. · 0 citations
Review Open access Sep 2026

Gut microbiome dysbiosis, short-chain fatty acid depletion and implications for neuroinflammation in atypical parkinsonian syndromes – a systematic review of patient cohorts

Introduction Atypical parkinsonian syndromes (APS) such as progressive supranuclear palsy (PSP), multiple system atrophy (MSA) and corticobasal syndrome (CBS) pose a major clinical challenge due to their progressive disease course, reduced life expectancy and resistance to dopaminergic therapy. The gut microbiome has g...

Samiullah Amin Khan, T. Hegelmaier, Florian Wegner et al. · 0 citations

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