Evidence map›Paper›PMID 41531943›Full record

ArticleJIMD reports2026

Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.

Molly M Crenshaw, Yasmeen Midgette, Shruthi Mohan, Ruhan Wei, Mariele Anneling, Monika Williams, Milap Patel, Benjamin T Cocanougher, Sarah P Young, Dmitriy Niyazov and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in JIMD reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. 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

12 authors.

Molly M CrenshawDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.ORCID https://orcid.org/0000-0002-0915-6154
Yasmeen MidgetteDivision of Neonatology, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
Shruthi MohanDepartment of Pathology, Molecular Diagnostics Laboratory Duke University Health System Durham North Carolina USA.
Ruhan WeiDepartment of Pathology Duke University Medical Center Durham North Carolina USA.
Mariele AnnelingDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
Monika WilliamsDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
Milap PatelDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
Benjamin T CocanougherDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
Sarah P YoungDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.
Dmitriy NiyazovDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.ORCID https://orcid.org/0009-0009-2707-7319
Areeg El-GharbawyDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.ORCID https://orcid.org/0000-0002-0682-388X
Ashlee R StilesDivision of Medical Genetics, Department of Pediatrics Duke University Medical Center Durham North Carolina USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Molybdenum cofactor deficiency (MoCD) is an inborn error of metabolism included in the differential for refractory neonatal seizures. The prognosis is guarded, with a median reported age of death between 2.4 and 3.0 years. Mortality is primarily due to seizures and lower respiratory tract infections. MoCD has a distinct biochemical profile, characterized by elevated urinary

Indexed as

fosdenopterinmolybdenum cofactor deficiencynewborn screeningS‐sulfocysteine

Identifiers

PMID41531943
PMCPMC12790947

What OpenQuestion holds

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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.