Evidence map›Paper›PMID 42375814›Full record

ArticleJIMD reports2026

Clinical Characteristics of 19 Patients With Acid Sphingomyelinase Deficiency: A Case Series From Multiple Centers in Argentina.

Maria Cristina Robin, Consuelo Durand, Guillermo Guelbert, Norberto Guelbert, Mariana Leguizamon, Mariana Nuñez Miñana, Maria Alejandra Cédola, Maria Gabriela de Lourdes Pacheco, Evangelina Gonzalez, Marisa Spallina and 1 more

Abstract read
In one paragraph

Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Maria Cristina RobinClínica Universitaria Reina Fabiola Córdoba Argentina.ORCID https://orcid.org/0009-0002-6754-7273
Consuelo DurandHospital Británico de Buenos Aires Buenos Aires Argentina.ORCID https://orcid.org/0000-0002-3296-4184
Guillermo GuelbertClínica Universitaria Reina Fabiola Córdoba Argentina.
Norberto GuelbertClínica Universitaria Reina Fabiola Córdoba Argentina.
Mariana LeguizamonHospital del Niño Jesús San Miguel de Tucumán Argentina.
Mariana Nuñez MiñanaHospital de Niños Sor María Ludovica La Plata Buenos Aires Argentina.
Maria Alejandra CédolaClínica San Lucas Neuquén Argentina.
Maria Gabriela de Lourdes PachecoHospital Público Materno Infantil Salta Argentina.
Evangelina GonzalezSanatorio de Niños Rosario, Santa Fe Argentina.ORCID https://orcid.org/0009-0007-7570-6189
Marisa SpallinaPrivate Practice, Baradero Buenos Aires Argentina.
Sandra QuijanoHospital Julio C. Perrando Resistencia Chaco Argentina.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Acid sphingomyelinase deficiency (ASMD), historically known as Niemann-Pick disease, is a rare and potentially fatal lysosomal storage disease caused by pathogenic variants in the sphingomyelin phosphodiesterase 1 (

Indexed as

acid sphingomyelinase deficiencyASMDdiagnosisNiemann‐Pick disease Types A/B

Identifiers

PMID42375814
PMCPMC13310959

What Socratic holds

Textmetadata
LicenceCC BY
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.