Evidence map›Paper›PMID 36729192›Full record

ReviewJapanese journal of radiology2023

Neuroimaging findings of inborn errors of metabolism: urea cycle disorders, aminoacidopathies, and organic acidopathies.

Mikako Enokizono, Noriko Aida, Akira Yagishita, Yasuhiro Nakata, Reiko Ideguchi, Ryo Kurokawa, Tatsuo Kono, Toshio Moritani, Harushi Mori

Abstract readReview
In one paragraph

Review in Japanese journal of radiology, 2023. 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

9 authors.

Mikako EnokizonoDepartment of Radiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo, 183-8561, Japan. mikako_enokizono@tmhp.jp.ORCID http://orcid.org/0000-0002-8652-5742
Noriko AidaDepartment of Radiology, Kanagawa Children's Medical Center, Yokohama, Kanagawa, Japan.
Akira YagishitaDepartment of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.
Yasuhiro NakataDepartment of Neuroradiology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.
Reiko IdeguchiDepartment of Radioisotope Medicine, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
Ryo KurokawaThe Division of Neuroradiology, Department of Radiology, University of Michigan, Ann Arbor, MI, USA.
Tatsuo KonoDepartment of Radiology, Tokyo Metropolitan Children's Medical Center, 2-8-29 Musashidai, Fuchu, Tokyo, 183-8561, Japan.
Toshio MoritaniThe Division of Neuroradiology, Department of Radiology, University of Michigan, Ann Arbor, MI, USA.
Harushi MoriDepartment of Radiology, School of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although there are many types of inborn errors of metabolism (IEMs) affecting the central nervous system, also referred to as neurometabolic disorders, individual cases are rare, and their diagnosis is often challenging. However, early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurological impairment or death. The clinical course of IEMs is very diverse, with some diseases progressing to acute encephalopathy following infection or fasting while others lead to subacute or slowly progressive encephalopathy. The diagnosis of IEMs relies on biochemical and genetic tests, but neuroimaging studies also provide important clues to the correct diagnosis and enable the conditions to be distinguished from other, more common causes of encephalopathy, such as hypoxia-ischemia. Proton magnetic resonance spectroscopy (

Indexed as

Brain DiseasesMetabolism, Inborn ErrorsUrea Cycle Disorders, InbornEarly DiagnosisHumansNeuroimagingAminoacidopathyInborn errors of metabolismMagnetic resonance spectroscopyOrganic acidopathyUrea cycle disorders

Identifiers

PMID36729192
PMCPMC9893193

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Registered trials

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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.