ArticleMolecular genetics and metabolism reports2021
Leigh syndrome-like MRI changes in a patient with biallelic
Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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.
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.
Who cites it
11 citing papers in PubMed, 12 citations in OpenAlex.
- New insights into HPDL protein: identification of a novel Bi-allelic variant, docking simulation study, and literature review.BMC medical genomics · 2026Review
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- HPDL Variant Type Correlates With Clinical Disease Onset and Severity.Annals of clinical and translational neurology · 2025Observational
- Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Generation and Characterization of hiPS Lines from Three Patients Affected by Different Forms ofInternational journal of molecular sciences · 2024Article
- Acute Ophthalmoplegia with Wernicke-Like MRI Pattern in a Patient with HPDL-Related Disorder.Movement disorders clinical practice · 2024Article
- A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.Neurogenetics · 2024Review
- Nutritional Approach in Selected Inherited Metabolic Cardiac Disorders-A Concise Summary of Available Scientific Evidence.Nutrients · 2023Review
- Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023Review
- HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.Molecular genetics & genomic medicine · 2022Article
- Case Report: Two Families WithFrontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.