Evidence map›Paper›PMID 42353297›Full record

ArticleInternational journal of molecular sciences2026

Hepatic Alpha-1 Antitrypsin Globules in Compound Heterozygous SERPINA1 Variants Previously Considered Non-Polymerizing: A Case Report.

Panaiotis Finamore, Simona Santangelo, Paolo Gallo, Ilaria Ferrarotti, Alice Maria Balderacchi, Andrea Falcomatà, Daniele Colombo, Franca Del Nonno, Umberto Vespasiani-Gentilucci, Raffaele Antonelli Incalzi and 1 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Panaiotis FinamoreUnit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.ORCID 0000-0002-8608-9223
Simona SantangeloUnit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Paolo GalloOperative Research Unit of Clinical Medicine and Hepatology, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.ORCID 0000-0001-8292-1134
Ilaria FerrarottiLaboratory of Molecular Pulmonology, UOC Pulmonology, IRCCS S. Matteo Hospital Foundation Pavia, 27100 Pavia, Italy.ORCID 0000-0003-4892-4192
Alice Maria BalderacchiLaboratory of Molecular Pulmonology, UOC Pulmonology, IRCCS S. Matteo Hospital Foundation Pavia, 27100 Pavia, Italy.ORCID 0000-0003-0714-1087
Andrea FalcomatàOperative Research Unit of Clinical Medicine and Hepatology, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Daniele ColomboPathology Unit, National Institute for Infectious Diseases "Lazzaro Spallanzani" (IRCCS), 00149 Rome, Italy.ORCID 0000-0001-8607-2950
Franca Del NonnoPathology Unit, National Institute for Infectious Diseases "Lazzaro Spallanzani" (IRCCS), 00149 Rome, Italy.ORCID 0000-0001-6664-9257
Umberto Vespasiani-GentilucciOperative Research Unit of Clinical Medicine and Hepatology, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Raffaele Antonelli IncalziUnit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.
Simone ScarlataUnit of Internal Medicine, Fondazione Policlinico Universitario Campus Bio-Medico, 00128 Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alpha-1 antitrypsin deficiency (AATD) is a genetically heterogeneous disorder with well-established pulmonary and hepatic manifestations; however, the clinical significance of rare compound heterozygous SERPINA1 variants remains incompletely defined. We report the case of a 61-year-old never-smoking woman with chronically elevated liver transaminase who was found to carry a compound heterozygous SERPINA1 genotype (PI*V/M

Indexed as

alpha 1-Antitrypsinalpha 1-Antitrypsin DeficiencyLiverFemaleGenotypeHeterozygoteHumansMiddle Agedalpha 1-AntitrypsinSERPINA1 protein, humanalpha-1 antitrypsin deficiencygene expressionliver–lung interactionsMprocida

Identifiers

PMID42353297
PMCPMC13299796

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.