Evidence map›Paper›PMID 40981306›Full record

ArticleInternational journal of neonatal screening2025

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Alessandra Vasco, Clarissa Berardo, Simona Lucchi, Laura Cappelletti, Giulio Tamburello, Salvatore Fazzone, Alessia Mauri, Francesca Fiumani, Diana Postorivo, Luisella Alberti and 8 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of neonatal screening, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

18 authors.

Alessandra VascoCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0003-4933-4266
Clarissa BerardoCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0002-1257-5843
Simona LucchiCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Laura CappellettiCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0003-2863-5596
Giulio TamburelloCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Salvatore FazzoneCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Alessia MauriCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0001-5675-5347
Francesca FiumaniCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Diana PostorivoCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Luisella AlbertiCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0003-2582-1019
Michela Perrone DonnorsoCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Serena GasperiniPediatric Rare Diseases Unit, Fondazione IRCCS San Gerardo dei Tintori, 20900 Monza, Italy.ORCID 0000-0001-8743-4407
Francesca FurlanPediatric Intensive Care Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Laura FioriDepartment of Pediatrics, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0003-3579-7403
Stephana CarelliCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0003-4603-396X
Laura Assunta SaielliCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Cristina MontrasioCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.
Cristina CeredaCenter of Functional Genomics, Rare Diseases and Newborn Screening, Buzzi Children's Hospital, 20154 Milan, Italy.ORCID 0000-0001-9571-0862

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel. It is caused by mutations in the

Indexed as

beta-ketothiolase deficiencyinborn errors of metabolism (IEMs)mitochondrial acetoacetyl-CoA thiolase deficiencynewborn screening (NBS)organic acidemias (OAs)organic acidsrare diseases

Identifiers

PMID40981306
PMCPMC12452439

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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.