ReviewAmerican journal of human genetics1995
Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
Review in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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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
21 citing papers in PubMed.
- Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.Journal of inherited metabolic disease · 2026Review
- A Nationwide Study of Pyruvate Dehydrogenase Complex Deficiency in Sweden: Epidemiology, Genotype-Phenotype Correlations, and Survival.Neurology · 2026Article
- Pyruvate Dehydrogenase Complex Deficiency: A Review of Treatments and Case Series.International journal of molecular sciences · 2026Review
- Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.European journal of neurology · 2024Article
- Mitochondrial Alpha-Keto Acid Dehydrogenase Complexes: Recent Developments on Structure and Function in Health and Disease.Sub-cellular biochemistry · 2024Review
- Dosage Compensation in Females with X-Linked Metabolic Disorders.International journal of molecular sciences · 2021Review
- Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2021Article
- DeepPheno: Predicting single gene loss-of-function phenotypes using an ontology-aware hierarchical classifier.PLoS computational biology · 2020Article
- Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair.Human genetics · 2019Article
- Review
- Gender-Related Effect of Sodium Dichloroacetate on the Number of Hassall's Corpuscles and RNA NKCC1 Expression in Rat Thymus.BioMed research international · 2019Article
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- Effects of downregulating GLIS1 transcript on preimplantation development and gene expression of bovine embryos.The Journal of reproduction and development · 2015Article
- MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.Pediatric neurology · 2011Article
- Proteomic profiling in early venous stenosis formation in a porcine model of hemodialysis graft.Journal of vascular and interventional radiology : JVIR · 2009Article
- Dominant versus recessive: molecular mechanisms in metabolic disease.Journal of inherited metabolic disease · 2008Review
- Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.European journal of pediatrics · 2006Article
- More on the X files.Proceedings of the National Academy of Sciences of the United States of America · 1999Article
- Pyruvate dehydrogenase complex deficiency and absence of subunit X.Journal of inherited metabolic disease · 1998Article
- An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.American journal of human genetics · 1995Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
7887408PMC1801181What 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.