Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*).

Rita Quelhas da Costa, Francisco Laranjeira, Isaura Duarte Ribeiro, António Filipe Santos, Filipe Nery

Open access · diamondAbstract readCase Reports

In one paragraph

Article in GE Portuguese journal of gastroenterology, 2022. 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

0.1field-weighted citation impact, top 45% of its field

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 citations in OpenAlex.

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.Cureus · 2023
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

5 authors at 2 institutions in 1 country.

Rita Quelhas da CostaServiço de Medicina, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Francisco LaranjeiraUnidade de Bioquímica Genética, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Isaura Duarte RibeiroUnidade de Bioquímica Genética, Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.

António Filipe SantosServiço de Hematologia Laboratorial, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Filipe NeryServiço de Cuidados Intensivos - Unidade de Cuidados Intermédios Médico-Cirúrgica, Centro Hospitalar Universitário do Porto, Porto, Portugal.

Centro Hospitalar do Porto · PTUniversidade do Porto · PT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Metabolic associated fatty liver disease became the most common form of chronic liver disease, in the vast majority of the cases related to increased insulin resistance or metabolic dysregulation. Yet, other causes may be implied. We report the late diagnosis of Dorfman-Chanarin syndrome in a non-alcoholic steatohepatitis previously labeled cirrhotic middle-aged man, with consanguineous parents, complicated with hepatocellular carcinoma. Congenital ichthyosis, neurosensory hearing loss and elevated muscular enzymes hit on the track of Dorfman-Chanarin syndrome. The genetic analysis uncovered a first-time described homozygotic nonsense mutation in the

Indexed as

Dorfman-Chanarin syndromeInborn errors of metabolismLiver transplantationMetabolic associated fatty liver disease

Identifiers

PMID35979251

DOI10.1159/000517103

PMCPMC9274987

OpenAlexW3181393795

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC

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.