Evidence map›Paper›PMID 38235040›Full record

ArticleNeurology. Genetics2023

Novel

Kristen N Wong, Lorenzo D Botto, Miao He, Peter R Baker, Adeline L Vanderver, Joshua L Bonkowsky

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

Article in Neurology. Genetics, 2023. 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 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed, 3 citations in OpenAlex.

  1. Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2026
    Review
  2. Article
  3. Rigorous genetic diagnosis review in natural history studies.Orphanet journal of rare diseases · 2026
    Article
  4. Review
  5. Article
  6. Erratum: Missing Full Disclosures.Neurology. Genetics · 2024
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 1 institution in 1 country.

Kristen N WongFrom the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Lorenzo D BottoFrom the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Miao HeFrom the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Peter R BakerFrom the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Adeline L VanderverFrom the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.
Joshua L BonkowskyFrom the Division of Pediatric Neurology, Department of Pediatrics (KNW, JLB) and Division of Genetics, Department of Pediatrics (LDB), University of Utah School of Medicine, Salt Lake City; Division of Laboratory Medicine, Department of Pathology and Laboratory Medicine (MH), Children's Hospital of Philadelphia, PA; Division of Clinical Genetics and Metabolism, Department of Pediatrics (PRB), University of Colorado School of Medicine, Aurora; Department of Neurology (ALV), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Division of Neurology (ALV), Children's Hospital of Philadelphia, PA; Center for Personalized Medicine (JLB), Primary Children's Hospital, Salt Lake City, UT.ORCID https://orcid.org/0000-0001-8775-147X
Primary Children's Hospital · US

Funding

Validation of the GMFC-MLDU54NS115052 · NINDS · CHILDREN'S HOSP OF PHILADELPHIA · PI Laura Ann Adang, FLORIAN S EICHLER · 2019 to 2026
$14.3M
NINDS NIH HHS U54 NS115052
6 · The paper itself

Abstract

Objectives: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a recently described autosomal recessive leukoencephalopathy caused by pathogenic variants in the Methods: This report contributes 4 additional patients to the literature; describes novel variants in Results: We provide additional genetic, imaging, and laboratory insights into ARLIAK, an atypical leukodystrophy with clinical and radiologic findings that can normalize. Discussion: Our case series highlights the importance of reanalysis of next-generation sequencing in the diagnostic workup.

Identifiers

PMID38235040
PMCPMC10523284
OpenAlexW4387037333

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.