Evidence map›Paper›PMID 30619713›Full record

ArticleMolecular genetics and metabolism reports2019

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Fady Hannah-Shmouni, Lauren MacNeil, Murray Potter, Rebekah Jobling, Grace Yoon, Suzanne Laughlin, Susan Blaser, Michal Inbar-Feigenberg

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

Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Molybdenum cofactor deficiency: A natural history.Journal of inherited metabolic disease · 2022
    Article
  4. Neonatal Seizures Revisited.Children (Basel, Switzerland) · 2021
    Review
  5. New Insights into the Cystine-Sulfite Reaction.Molecules (Basel, Switzerland) · 2019
    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 2 institutions in 1 country.

Fady Hannah-ShmouniDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.
Lauren MacNeilDivision of Paediatric Laboratory Medicine, The Hospital for Sick Children, Canada.
Murray PotterPathology and Molecular Medicine, McMaster Health Sciences Centre, McMaster University, Canada.
Rebekah JoblingDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.
Grace YoonDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.
Suzanne LaughlinDivision of Neuroradiology, The Hospital for Sick Children, University of Toronto, Canada.
Susan BlaserDivision of Neuroradiology, The Hospital for Sick Children, University of Toronto, Canada.
Michal Inbar-FeigenbergDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Canada.
University of Toronto · CAMcMaster University Medical Centre · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD). MoCoD may present with non-specific hypoxic ischemic injury in the neonatal period with MRI showing extensive prenatally acquired cystic encephalomalacia involving grey and white matter. Most newborns with MoCoD will present with normal head size and brain appearance at birth and postnatally rapidly develop cystic encephalomalacia. A significant minority will present with signs of prenatal brain injury or malformation. It is important to consider the diagnosis in both scenarios. Low plasma urate and homocysteine may help direct the diagnostic evaluation. Herein, we describe the clinical, radiological and biochemical features of a newborn with MoCoD that was initially suspected of having the condition on biochemical screening and confirmed on rapid whole exome sequencing.

Indexed as

Brain MRICysticInborn errors of metabolismMolybdenum cofactor deficiency

Identifiers

PMID30619713
PMCPMC6304431
OpenAlexW2906379575

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.