Evidence map›Paper›PMID 40134705›Full record

ArticleFrontiers in cellular neuroscience2025

Riboflavin transporter deficiency:

Cecilia Mei, Valentina Magliocca, Xin Chen, Keith Massey, Anai Gonzalez-Cordero, Steven J Gray, Marco Tartaglia, Enrico Silvio Bertini, Stefania Corti, Claudia Compagnucci

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in cellular neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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. Review
  2. 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

10 authors.

Cecilia MeiDepartment of Pathophysiology and Transplantation (DEPT), Università degli studi di Milano, Milan, Italy.
Valentina MaglioccaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Xin ChenDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Keith MasseyCure RTD Foundation, Calgary, AB, Canada.
Anai Gonzalez-CorderoStem Cell Medicine Group, Children's Medical Research Institute, University of Sydney, Westmead, NSW, Australia.
Steven J GrayDepartment of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, United States.
Marco TartagliaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Enrico Silvio BertiniUnit of Neuromuscular and Neurodegenerative Disorders, Translational Pediatrics and Clinical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
Stefania CortiDepartment of Pathophysiology and Transplantation (DEPT), Università degli studi di Milano, Milan, Italy.
Claudia CompagnucciMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Riboflavin transporter deficiency syndrome (RTD) is a rare childhood-onset neurodegenerative disorder caused by mutations in

Indexed as

gene therapyhuman pluripotent stem cellsmorphological neuronal phenotypingmotoneuronal differentiationneurodegenerative autosomal recessive disease

Identifiers

PMID40134705
PMCPMC11933037

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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.