Evidence map›Paper›PMID 36873086›Full record

ArticleJIMD reports2023

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening.

Isaac Bernhardt, Emma Glamuzina, Bryony Ryder, Detlef Knoll, Natasha Heather, Mark De Hora, Dianne Webster, Callum Wilson

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 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
0.4field-weighted citation impact, top 39% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. 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 1 institution in 1 country.

Isaac BernhardtNational Metabolic Service, Auckland City Hospital and Starship Children's Hospital Auckland New Zealand.ORCID https://orcid.org/0000-0001-9368-9887
Emma GlamuzinaNational Metabolic Service, Auckland City Hospital and Starship Children's Hospital Auckland New Zealand.
Bryony RyderNational Metabolic Service, Auckland City Hospital and Starship Children's Hospital Auckland New Zealand.
Detlef KnollChemical Pathology (Section New Born Screening), Auckland City Hospital Auckland New Zealand.
Natasha HeatherNewborn Metabolic Screening Unit, Auckland City Hospital Auckland New Zealand.
Mark De HoraChemical Pathology (Section New Born Screening), Auckland City Hospital Auckland New Zealand.
Dianne WebsterNewborn Metabolic Screening Unit, Auckland City Hospital Auckland New Zealand.
Callum WilsonNational Metabolic Service, Auckland City Hospital and Starship Children's Hospital Auckland New Zealand.ORCID https://orcid.org/0000-0003-2034-767X
Auckland City Hospital · NZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Newborn screening (NBS) for classical galactosaemia (CG) facilitates early diagnosis and treatment to prevent life-threatening complications, but remains controversial, and screening protocols vary widely between programmes. False-negatives associated with first-tier screening of total galactose metabolites (TGAL) are infrequently reported; however, newborns with TGAL below the screening threshold have not been systematically studied. Following the diagnosis of CG in two siblings missed by NBS, a retrospective cohort study of infants with TGAL just below the cut-off (1.5 mmol/L blood) was conducted. Children born in New Zealand (NZ) from 2011 to 2019, with TGAL 1.0-1.49 mmol/L on NBS were identified from the national metabolic screening programme (NMSP) database, and clinical coding data and medical records were reviewed.

Identifiers

PMID36873086
PMCPMC9981414
OpenAlexW4296899511

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.