Evidence map›Paper›PMID 41002989›Full record

ArticleMetabolites2025

Enzymatic Evolution and Longitudinal Recovery in Biotinidase Deficiency: Genotypic and Clinical Insights from the Follow-Up of a Newborn-Screened Cohort in Emilia-Romagna, Italy.

Rita Ortolano, Soara Menabò, Egidio Candela, Giacomo Biasucci, Elisa Bortolamedi, Giulia Montanari, Alessandro Zuccotti, Umberto Cattini, Marcello Lanari, Federico Baronio

Erratum issuedAbstract read
In one paragraph

Article in Metabolites, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors.

Rita OrtolanoPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0001-8218-1463
Soara MenabòMedical Genetics Unit, IRCCS, Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-2379-4232
Egidio CandelaPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-4573-9314
Giacomo BiasucciPediatrics and Neonatology Unit, Guglielmo da Saliceto Hospital, 29121 Piacenza, Italy.ORCID 0000-0002-7441-9248
Elisa BortolamediPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0009-0001-1669-2190
Giulia MontanariSpecialty School of Pediatrics, Alma Mater Studiorum, University of Bologna, 40126 Bologna, Italy.
Alessandro ZuccottiSpecialty School of Pediatrics, Alma Mater Studiorum, University of Bologna, 40126 Bologna, Italy.
Umberto CattiniPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Marcello LanariPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
Federico BaronioPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.ORCID 0000-0003-3470-6880

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

biotinidase deficiencybiotin therapyBTD enzyme activityenzymatic recoverygenotype–phenotype correlationlongitudinal follow-upnewborn screeningpartial biotinidase deficiencyp.Asp444His variant

Identifiers

PMID41002989
PMCPMC12471456

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.