Orphanet Journal of Rare Diseases

SEP 8, 2026 · JOURNAL ARTICLE

Multidimensional analysis of pulmonary blastoma: clinical, bibliometric and bioinformatic insights

Orphanet Journal of Rare Diseases

A single case report integrated with bibliometric review and exploratory bioinformatic analysis of gene expression datasets; no clinical trial, no new diagnostic or therapeutic validation, and no quantitative evidence of intervention efficacy beyond one patient's response.

AUG 31, 2026 · JOURNAL ARTICLE

Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN): integrating epidemiological insights with diagnostic and therapeutic progress

Orphanet Journal of Rare Diseases

A narrative review synthesizing epidemiological, diagnostic, and therapeutic literature on a rare genetic disorder, presenting clinical consensus and recommendations rather than primary evidence from a trial or analysis.