Evidence map›Paper›PMID 41404429›Full record

ArticleFrontiers in pediatrics2025

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in

Giulia Ferrera, Giorgia Segre, Eleonora Lamantea, Daniele Ghezzi, Marta Rivelli, Anna Ardissone

Abstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 2025. 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

6 authors.

Giulia FerreraUnit of Child Neurology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Giorgia SegreUnit of Child Neurology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Eleonora LamanteaUnit of Medical Genetics and Neurogenetics, Mariani Centre for Paediatric Mitochondrial Disorders, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Daniele GhezziUnit of Medical Genetics and Neurogenetics, Mariani Centre for Paediatric Mitochondrial Disorders, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Marta RivelliHospital Pharmacy, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Anna ArdissoneUnit of Child Neurology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Mitochondrial diseases (MDs) caused by pathogenic variants in aminoacyl-tRNA synthetase ( Methods: We report two siblings with genetically confirmed MLASA2 due to homozygous Results: Tyrosine was well tolerated. The more severely affected sibling showed improvements in motor function, endurance, and quality of life, with modest prolongation of transfusion intervals. The milder sibling reported increased energy and functional gains. Cardiac function remained stable. Literature review revealed only five prior Conclusion:

Indexed as

amino acidsaminoacyl-tRNA synthetase defectARS2MLASA2treatmenttyrosineYARS2

Identifiers

PMID41404429
PMCPMC12702842

What Socratic 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 Socratic graph.