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Progression and Augmentation Therapy in PiSZ and PiZZ Alpha-1 Antitrypsin Deficiency: A Longitudinal Functional and Densitometric Study.

Biomolecules - 17 Apr 2025

Esmaili Soha, Rodríguez Hermosa Juan Luis, Vargas Centanaro Gianna, Álvarez-Sala José Luis, Esmaili Iman, Calle Rubio Myriam

Abstract excerpt

BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder associated with an increased risk of developing chronic obstructive pulmonary disease (COPD) with variable phenotypic expression among different genotypes. While the PiZZ genotype is well characterized, the clinical and structural progression of PiSZ individuals remains less defined. This study evaluates genotype-specific disease trajectories...

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Identifiers

PMID: 40305326
DOI: 10.3390/biom15040599
PMCID: PMC12024921

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