Evidence map›Paper›PMID 39201333›Full record

ArticleInternational journal of molecular sciences2024

Evaluation of 73 Enlisted Patients for Liver Transplant with Unknown Etiology Reveals a Late-Diagnosed Case of Lysosomal Acid Lipase Deficiency.

Karina Lucio de Medeiros Bastos, Bruno de Oliveira Stephan, Bianca Domit Werner Linnenkamp, Larissa Athayde Costa, Fabiana Roberto Lima, Laura Machado Lara Carvalho, Rachel Sayuri Honjo, Uenis Tannuri, Ana Cristina Aoun Tannuri, Chong Ae Kim

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

10 authors.

Karina Lucio de Medeiros BastosUnidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.
Bruno de Oliveira StephanUnidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.ORCID 0000-0002-5711-0230
Bianca Domit Werner LinnenkampUnidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.ORCID 0000-0001-9889-293X
Larissa Athayde CostaUnidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.
Fabiana Roberto LimaDepartamento de Anatomia Patológica, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-010, SP, Brazil.
Laura Machado Lara CarvalhoCentro de Estudos do Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo (IBUSP), Sao Paulo 05508-090, SP, Brazil.ORCID 0000-0001-5599-2236
Rachel Sayuri HonjoUnidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.
Uenis TannuriCirurgia Pediátrica, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.
Ana Cristina Aoun TannuriCirurgia Pediátrica, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.
Chong Ae KimUnidade de Genética, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (FMUSP), Sao Paulo 05403-000, SP, Brazil.ORCID 0000-0002-1754-1300

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Lysosomal acid lipase deficiency (LALD) varies from a severe infantile-onset form (Wolman disease) to a late-onset form known as cholesteryl ester storage disease (CESD), both of which are autosomal recessive disorders caused by biallelic

Indexed as

Liver TransplantationSterol EsteraseWolman DiseaseAdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleYoung AdultLIPA protein, humanSebelipase alfaSterol Esterasegenetic counselingLIPA gene testingliver transplantlysosomal acid lipase deficiency

Identifiers

PMID39201333
PMCPMC11354363

What OpenQuestion holds

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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 OpenQuestion graph.