Evidence map›Paper›PMID 29502916›Full record

ReviewPediatric clinics of North America2018

Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.

Areeg El-Gharbawy, Jerry Vockley

Open access · greenAbstract readReview
In one paragraph

Review in Pediatric clinics of North America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
49citing papers in PubMed, 1 pooled it
3.0field-weighted citation impact, top 9% 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

49 citing papers in PubMed, 1 synthesis or guideline pooled it, 88 citations in OpenAlex.

  1. Pooled it
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  3. Review
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  14. EPA and DHA Enhance CACT Promoter Activity by GABP/NRF2.International journal of molecular sciences · 2024
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  19. Four novel variants identified in theFrontiers in genetics · 2024
    Article
  20. The Myc-Like Mlx Network Impacts Aging and Metabolism.bioRxiv : the preprint server for biology · 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

2 authors at 1 institution in 2 countries.

Areeg El-GharbawyDepartment of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA; Cairo University, Kasr Al-Aini, Cairo, Egypt.
Jerry VockleyDepartment of Pediatrics, Division of Medical Genetics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address: Gerard.vockley@chp.edu.
Children's Hospital of Pittsburgh · US

Funding

Inborn Errors of Long Chain Fat MetabolismR01DK078775 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI VOCKLEY, GERARD · 2008 to 2019
$4.5M
NIDDK NIH HHS R01 DK078775
6 · The paper itself

Abstract

Fatty acid oxidation disorders (FAODs) and carnitine shuttling defects are inborn errors of energy metabolism with associated mortality and morbidity due to cardiomyopathy, exercise intolerance, rhabdomyolysis, and liver disease with physiologic stress. Hypoglycemia is characteristically hypoketotic. Lactic acidemia and hyperammonemia may occur during decompensation. Recurrent rhabdomyolysis is debilitating. Expanded newborn screening can detect most of these disorders, allowing early, presymptomatic treatment. Treatment includes avoiding fasting and sustained extraneous exercise and providing high-calorie hydration during illness to prevent lipolysis, and medium-chain triglyceride oil supplementation in long-chain FAODs. Carnitine supplementation may be helpful. However, conventional treatment does not prevent all symptoms.

Indexed as

CarnitineFatty AcidsHumansInfantInfant, NewbornMetabolism, Inborn ErrorsMuscular DiseasesNeonatal ScreeningOxidation-ReductionCarnitineFatty AcidsCardiomyopathyCarnitine shuttling defectsFatty acid oxidation defectsRhabdomyolysis

Identifiers

PMID29502916
PMCPMC6566095
OpenAlexW2780257959

What OpenQuestion holds

Textmetadata
LicenceTDM
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.