ArticleCase reports in pathology2026
Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in
Article in Case reports in pathology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant inCase reports in pathology · 2026Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate-limiting step in heme synthesis is the conjugation of glycine with succinyl-CoA to form 5-aminolevulinic acid (ALA), which is catalyzed by two closely related enzymes that are coded by highly homologous genes, known as Case Report: A previously healthy 34-year-old woman presented to the emergency department of her local hospital complaining of severe fatigue. Her arterial pH was 6.95. No cause for her acidosis could be identified, and she expired from unremitting acidosis. The autopsy was notable for an enlarged liver. Whole exome sequencing identified a rare, paternally inherited variant in Discussion: We hypothesize that the P425S variant identified in
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Registered trials
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