Evidence map›Paper›PMID 33644249›Full record

ArticleChild neurology open

The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.

Meaghan McGowan, Carlos Ferreira, Matthew Whitehead, Sudeepta K Basu, Taeun Chang, Andrea Gropman

Erratum issued Registry-linked trialOpen access · hybridAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Child neurology open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT00237315 (Longitudinal Study of Urea Cycle Disorders), which is not on this map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.7field-weighted citation impact, top 35% 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.

NCT00237315 unknown statusnot on this map

Longitudinal Study of Urea Cycle Disorders

TypeobservationalSponsorAndrea GropmanRan2006 to 2026Enrolled1,500ConditionsBrain Diseases, Metabolic, Inborn, Amino Acid Metabolism, Inborn Errors, Urea Cycle Disorders
3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Observational
  3. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 1 country.

Meaghan McGowanUniversity of Illinois College of Medicine, Chicago, IL, USA.
Carlos FerreiraMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Matthew WhiteheadNeuroradiology, Children's National Hospital, George Washington University School of Medicine, Washington, DC, USA.
Sudeepta K BasuNeonatology, Children's National Hospital, George Washington University School of Medicine, Washington, DC, USA.
Taeun ChangNeurology, Children's National Hospital, George Washington University School of Medicine, Washington, DC, USA.
Andrea GropmanNeurology, Children's National Hospital, George Washington University School of Medicine, Washington, DC, USA.ORCID https://orcid.org/0000-0002-2106-6776
George Washington University · USGeorge Washington University Hospital · USIllinois College · USNational Human Genome Research Institute · US

Funding

Training (Career Development) ComponentU54HD061221 · NICHD · CHILDREN'S RESEARCH INSTITUTE · PI NAGAMANI, SANDESH CHAKRAVARTHY SREENATH · 2009 to 2023
$20.8M
NICHD NIH HHS U54 HD061221
6 · The paper itself

Abstract

Neonatal-onset urea cycle disorders (UCDs) may result in hyperammonemic (HA) encephalopathy presenting with several neurologic sequelae including seizures, coma, and death. However, no recommendations are given in how and when neurodiagnostic studies should be used to screen or assess for these neurologic complications. We present a case of carbamoyl phosphate synthetase 1 (CPS1) deficiency in a newborn female in which electroencephalogram monitoring to assess encephalopathy and seizures, and magnetic resonance imaging measurements of brain metabolites were used to guide care during her hyperammonemic crisis. Her neurologic course and response to treatment characterizes the significant neurologic impact of HA encephalopathy. Our group herein proposes a clinical neurodiagnostic pathway for managing acute HA encephalopathy.

Indexed as

carbamoyl phosphate synthetaseeeghyperammonemiamrimrsnewbornseizuresurea cycle disorder

Identifiers

PMID33644249
PMCPMC7841664
OpenAlexW3125084798

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

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.