Evidence map›Paper›PMID 38125072›Full record

ArticleMolecular genetics and metabolism reports2024

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel

Wei-Lin Huang, Maija R Steenari, Rebekah Barrick, Mariella T Simon, Richard Chang, Shaya S Eftekharian, Alexander Stover, Philip H Schwartz, Alexandra Latini, Jose E Abdenur

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2024. 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
0.5field-weighted citation impact, top 32% of its field
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, 3 citations in OpenAlex.

  1. Article
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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 at 3 institutions in 2 countries.

Wei-Lin HuangDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Maija R SteenariDivision of Neurology, CHOC Children's, Orange, CA, United States.
Rebekah BarrickDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Mariella T SimonDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Richard ChangDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Shaya S EftekharianDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Alexander StoverDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Philip H SchwartzDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Alexandra LatiniDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Jose E AbdenurDivision of Metabolic Disorders, CHOC Children's, Orange, CA, United States.
Children's Hospital of Orange County · USUniversity of California, Irvine · USUniversidade Federal de Santa Catarina · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene Aim: To present a new family with two affected members with LBSL and report a novel Results: An 8-year-old boy (Patient 1) was referred due to headaches and abnormal MRI, suggestive of LBSL. Genetic testing revealed a previously reported c.492 + 2 T > C mutation in the Summary: We present a new family with two children affected with LBSL and describe a novel mutation in the

Indexed as

Aminoacyl tRNA synthetase deficiencyAspartyl tRNA synthetase deficiencyLeukodystrophyMitochondrial disordersSplicing mutations

Identifiers

PMID38125072
PMCPMC10731372
OpenAlexW4389264139

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.