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Ł. Sędek

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Review Open access Oct 2026

Rare bacterial infections and metagenomics: current diagnostic and therapeutic challenges-a literature review.

PURPOSE This review aims to summarize the diagnostic and therapeutic challenges associated with rare bacterial infections, with particular focus on Whipple's disease, melioidosis, Lemierre's syndrome, and nocardiosis. It also evaluates the clinical utility of emerging molecular diagnostic techniques, particularly polym...

Marta Tworuszka, Daria Gliwa, Anna Kurek-Górecka et al. · 0 citations
Open access Jul 2026

TANGO2-related metabolic encephalopathy–arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report

A case of a child with confirmed 22q11.2 deletion syndrome in whom a coexisting variant in the TANGO2 gene was diagnosed at the age of 5 after first metabolic crisis with rhabdomyolysis, demonstrating that exome sequencing should be pursued early when atypical features emerge in patients with established genetic diagno...

Ewa Grzywna-Rozenek, Ł. Sędek, M. Rydzanicz et al. · 0 citations

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