Evidence map›Paper›PMID 42311208›Full record

ArticleJournal of inherited metabolic disease2026

A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C.

Benjamín Szenfeld, Macarena Las Heras, Juan Carlos Rubilar, Pablo Villarreal, Valeria Olguín, Francisco A Cubillos, Andrés D Klein

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Benjamín SzenfeldCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Macarena Las HerasCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Juan Carlos RubilarCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Pablo VillarrealCentro de Genómica y Bioinformática, Facultad de Ciencias, Ingeniería y Tecnología, Universidad Mayor, Santiago, Chile.ORCID https://orcid.org/0000-0002-2254-0417
Valeria OlguínCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Francisco A CubillosMillennium Institute for Integrative Biology (iBio), Santiago, Chile.ORCID https://orcid.org/0000-0003-3022-469X
Andrés D KleinCentro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.ORCID https://orcid.org/0000-0002-9951-2174

Funding

FONDEQUIP EQM150093 ANID-CHILEFondo Nacional de Desarrollo Científico y Tecnológico 1230317
6 · The paper itself

Abstract

Niemann-Pick type C (NPC) is a childhood dementia characterized by lysosomal lipid accumulation. In Npc1

Indexed as

Niemann-Pick Disease, Type CSirolimusAnimalsAutophagyHumansMiceNiemann-Pick C1 ProteinPharmacogeneticsSaccharomyces cerevisiaeNiemann-Pick C1 ProteinSirolimusautophagylysosomal storage diseaseNiemann‐Pick type Cpharmacogenomicsprecision medicinerapamycinyeast

Identifiers

PMID42311208
PMCPMC13375594

What Socratic holds

Textmetadata
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 Socratic graph.