Evidence map›Paper›PMID 29159724›Full record

ArticleMetabolic brain disease2018

Turkish case of ethylmalonic encephalopathy misdiagnosed as short chain acyl-CoA dehydrogenase deficiency.

Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Gülen Gül-Mert, Sebile Kılavuz, Neslihan Önenli-Mungan

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Metabolic brain disease, 2018. 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
0.2field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2023
    Review
  2. 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

6 authors at 1 institution in 1 country.

Fatma Derya BulutDepartment of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey. deryaozduran@yahoo.com.ORCID 0000-0003-0529-2404
Deniz KörAdana Numune Teaching and Research Hospital, Adana, Turkey.
Berna Şeker-YılmazMersin Devlet Hastanesi, Mersin, Turkey.
Gülen Gül-MertAdana Numune Teaching and Research Hospital, Adana, Turkey.
Sebile KılavuzDepartment of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey.
Neslihan Önenli-MunganDepartment of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey.
Cukurova University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Ethylmalonic encephalopathy is a very rare autosomal recessively inherited inborn error of metabolism; characterized by encephalopathy, recurrent petechiae without bleeding diathesis, chronic diarrhea, and orthostatic acrocyanosis. Here, we describe a case of ethylmalonic encephalopathy with late onset neurologic symptoms and a confusing family history of two deceased brothers with the wrong suspicion of short chain acyl-CoA dehydrogenase deficiency.

Indexed as

Diagnostic ErrorsAcyl-CoA DehydrogenaseBrain Diseases, Metabolic, InbornHumansInfantLipid Metabolism, Inborn ErrorsMalePurpuraAcyl-CoA DehydrogenaseAcrocyanosisC4 and C5 acylcarnitinesEthylmalonic encephalopathyShort chain acyl-CoA dehydrogenase deficiency

Identifiers

PMID29159724
OpenAlexW2770825848

What OpenQuestion 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 OpenQuestion graph.