Evidence map›Paper›PMID 33552645›Full record

ArticleJournal of pediatric genetics2021

Expanding Role of Proton Magnetic Resonance Spectroscopy: Timely Diagnosis and Treatment Initiation in Partial Ornithine Transcarbamylase Deficiency.

Kuntal Sen, Carlos Castillo Pinto, Andrea L Gropman

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

Article in Journal of pediatric genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. 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
0.4field-weighted citation impact, top 41% 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, 4 citations in OpenAlex.

  1. Review
  2. Review
  3. Neuromonitoring in Rare Disorders of Metabolism.The Yale journal of biology and medicine · 2021
    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

3 authors at 1 institution in 1 country.

Kuntal SenDivision of Neurogenetics and Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States.ORCID 0000-0003-4211-8990
Carlos Castillo PintoCenter for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States.
Andrea L GropmanDivision of Neurogenetics and Developmental Pediatrics, Center for Neuroscience and Behavioral Medicine, Children's National Hospital, Washington, District of Columbia, United States.
Children's National · US

Funding

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

Abstract

We report the case of a 3-year-old male patient who presented with a 3-day history of altered mental status, emesis, and abdominal pain in the setting of a viral illness. A rapid screening revealed a high ammonia level and after reviewing his proton magnetic resonance spectroscopy (1H MRS) which showed the classic triad of high glutamate, low choline, and myoinositol, a diagnosis of ornithine transcarbamylase deficiency (OTCD) was made within 6 hours of presentation. Therapy with sodium phenylbutyrate and sodium benzoate was initiated and patient was discharged after 3 days with no neurologic disability. Biochemical and molecular testing eventually confirmed the diagnosis. 1H MRS is a practical and fast neuroimaging modality that can aid in diagnosis of OTCD and enables faster initiation of treatment in acute settings.

Indexed as

multimodal neuroimagingpartial OTC deficiencyproton MR spectroscopy

Identifiers

PMID33552645
PMCPMC7853912
OpenAlexW3018932864

What OpenQuestion holds

Textmetadata
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.