Evidence map›Paper›PMID 25085281›Full record

ReviewMolecular genetics and metabolism

Inborn errors of metabolism identified via newborn screening: Ten-year incidence data and costs of nutritional interventions for research agenda planning.

Bradford L Therrell, Michele A Lloyd-Puryear, Kathryn M Camp, Marie Y Mann

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed, 6 pooled it
4.2field-weighted citation impact, top 6% 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

64 citing papers in PubMed, 6 syntheses or guidelines pooled it, 111 citations in OpenAlex.

  1. Pooled it
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  5. Guideline
  6. Pooled it
  7. Trial
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  10. Anaplerotic therapy in propionic acidemia.Molecular genetics and metabolism · 2017
    Trial
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  12. Review
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  20. Suppressor tRNA in gene therapy.Science China. Life sciences · 2024
    Review

4 more citing papers are in PubMed but not listed here.

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 4 institutions in 1 country.

Bradford L TherrellDepartment of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78220, USA; National Newborn Screening and Global Resource Center, Austin, TX 78759, USA. Electronic address: therrell@uthscsa.edu.
Michele A Lloyd-PuryearOffice of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: mpuryear@acmg.net.
Kathryn M CampOffice of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: campkm@od.nih.gov.
Marie Y MannMaternal and Child Health Bureau, Health Resources and Services Administration, Rockville, MD 20857, USA. Electronic address: mmann@hrsa.gov.
Health Resources and Services Administration · USNational Institutes of Health · USOffice of Dietary Supplements · USThe University of Texas Health Science Center at San Antonio · US

Funding

Intramural NIH HHS Z99 OD999999
6 · The paper itself

Abstract

Inborn errors of metabolism (IEM) are genetic disorders in which specific enzyme defects interfere with the normal metabolism of exogenous (dietary) or endogenous protein, carbohydrate, or fat. In the U.S., many IEM are detected through state newborn screening (NBS) programs. To inform research on IEM and provide necessary resources for researchers, we are providing: tabulation of ten-year state NBS data for selected IEM detected through NBS; costs of medical foods used in the management of IEM; and an assessment of corporate policies regarding provision of nutritional interventions at no or reduced cost to individuals with IEM. The calculated IEM incidences are based on analyses of ten-year data (2001-2011) from the National Newborn Screening Information System (NNSIS). Costs to feed an average person with an IEM were approximated by determining costs to feed an individual with an IEM, minus the annual expenditure for food for an individual without an IEM. Both the incidence and costs of nutritional intervention data will be useful in future research concerning the impact of IEM disorders on families, individuals and society.

Indexed as

Neonatal ScreeningHealth Care CostsHumansIncidenceInfant, NewbornMetabolism, Inborn ErrorsPublic Health SurveillanceResearch DesignUnited StatesCostsInborn errors of metabolismIncidenceMedical foodsNewborn screeningNutrition

Identifiers

PMID25085281
PMCPMC4177968
OpenAlexW2048715905

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.