ReviewMedicine2026
Danon disease: Two case reports and literature review.
Review in Medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled 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.
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
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Calcineurin Inhibitors and Uric Acid Control in Solid Organ Transplantation: A Systematic Review.Medical sciences (Basel, Switzerland) · 2026Pooled it
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationaleDanon disease (DD) is an X-linked lysosomal storage disorder caused by LAMP2 variants, with males presenting more severe phenotypes. However, evidence for genotype-phenotype correlation remains limited. This study reports 2 male DD patients with distinct LAMP2 mutations to clarify mutation-specific prognostic differences. PATIENT CONCERNS: A 15-year-old male: chest tightness and palpitations, creatine kinase (CK) 3867 U/L, and hypertrophic cardiomyopathy. A 12-year-old male: exertional dyspnea and syncope, left ventricular ejection fraction 36%, left ventricular thrombus, and CK 5210 U/L. DIAGNOSES: Both were diagnosed with DD via genetic testing: the 15-year-old had a LAMP2 IVS6 + 1G > T splice mutation, and the 12-year-old carried a LAMP2 exon 1 deletion.
interventionsThe 15-year-old underwent heart transplantation followed by immunosuppressive therapy. The 12-year-old received only symptomatic treatment without transplantation. OUTCOMES: The 15-year-old had normal cardiac function and normalized CK levels during 24-month posttransplant follow-up. The 12-year-old died of heart failure 8 months after diagnosis. LESSONS: LAMP2 mutation types correlate with DD severity. Heart transplantation improves prognosis in severe cases, emphasizing the importance of early diagnosis and intervention.
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.