Evidence map›Paper›PMID 38090675›Full record

ArticleMolecular genetics and metabolism reports2024

A different perspective into clinical symptoms in CPT I deficiency.

Mehmet Cihan Balci, Meryem Karaca, Arzu Selamioglu, Huseyin Kutay Korbeyli, Asli Durmus, Belkis Ak, Tugba Kozanoglu, Gulden Fatma Gokcay

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 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
0.6field-weighted citation impact, top 32% 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, 3 citations in OpenAlex.

  1. Current Status of Cellular and Gene-Based Therapies for Congenital Metabolic Disorders: A Review.Medical science monitor : international medical journal of experimental and clinical research · 2026
    Review
  2. A novel presentation ofHeartRhythm case reports · 2026
    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

8 authors at 1 institution in 1 country.

Mehmet Cihan BalciDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Meryem KaracaDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Arzu SelamiogluDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Huseyin Kutay KorbeyliDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Asli DurmusDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Belkis AkDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Tugba KozanogluDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Gulden Fatma GokcayDivision of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, Istanbul, Turkey.
Istanbul University · TR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Carnitine palmitoyltransferase I (CPT I) deficiency is an autosomal recessive disorder causing long-chain fatty acid oxidation defect, characterized by metabolic decompensation episodes accompanied by hypoketotic hypoglycemia, hepatomegaly, seizures, renal tubular acidosis, and hyperammonemia. The aim of this study was to investigate the neurological symptoms in CPT I deficiency and different outcomes with respect to predisposing factors for sequela and to draw attention to the neurological impairment that may develop during the course of the disease. The retrospective study reviewed clinical characteristics of 14 patients. Mean follow-up period was 10.3 ± 4.7 (range: 8 months-18.6 years; median: 10 years) years. Three patients were diagnosed with newborn screening. In the symptomatic group (

Indexed as

Carnitine palmitoyltransferase I deficiencyFatty acidsLanguage development disordersNeurologic manifestationsReye-like syndromeSpeech disorders

Identifiers

PMID38090675
PMCPMC10711229
OpenAlexW4389195132

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.