Evidence map›Paper›PMID 27638592›Full record

ReviewJournal of neuroscience research2016

Newborn screening for Krabbe's disease.

Joseph J Orsini, Carlos A Saavedra-Matiz, Michael H Gelb, Michele Caggana

Open access · greenAbstract readReview
In one paragraph

Review in Journal of neuroscience research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.7field-weighted citation impact, top 10% 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

18 citing papers in PubMed, 25 citations in OpenAlex.

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  5. Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022
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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

4 authors at 3 institutions in 1 country.

Joseph J OrsiniLaboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York. joseph.orsini@health.ny.gov.
Carlos A Saavedra-MatizLaboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Michael H GelbDepartments of Chemistry and Biochemistry, University of Washington, Seattle, Washington.
Michele CagganaLaboratory of Human Genetics, Wadsworth Center, New York State Department of Health, Albany, New York.
Wadsworth Center · USNew York State Department of Health · USUniversity of Washington Applied Physics Laboratory · US

Funding

Multiplex Analysis of Inborn Errors of MetabolismR01DK067859 · NIDDK · UNIVERSITY OF WASHINGTON · PI GELB, MICHAEL H · 2003 to 2025
$9.8M
NIDDK NIH HHS R01 DK067859
6 · The paper itself

Abstract

Live newborn screening for Krabbe's disease (KD) was initiated in New York on August 7, 2006, and started in Missouri in August, 2012. As of August 7, 2015, nearly 2.5 million infants had been screened, and 443 (0.018%) infants had been referred for followup clinical evaluation; only five infants had been determined to have KD. As of August, 2015, the combined incidence of infantile KD in New York and Missouri is ∼1 per 500,000; however, patients who develop later-onset forms of KD may still emerge. This Review provides an overview of the processes used to develop the screening and followup algorithms. It also includes updated results from screening and discussion of observations, lessons learned, and suggested areas for improvement that will reduce referral rates and the number of infants defined as at risk for later-onset forms of KD. Although current treatment options for infants with early-infantile Krabbe's disease are not curative, over time treatment options should improve; in the meantime, it is essential to evaluate the lessons learned and to ensure that screening is completed in the best possible manner until these improvements can be realized. © 2016 Wiley Periodicals, Inc.

Indexed as

Neonatal ScreeningAlgorithmsAnimalsHumansInfant, NewbornLeukodystrophy, Globoid CellgalactocerebrosidaseGALClysosomal storage disordertandem mass spectrometry

Identifiers

PMID27638592
PMCPMC5328187
OpenAlexW2531170246

What OpenQuestion holds

Textmetadata
LicenceTDM
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.