Evidence map›Paper›PMID 40959693›Full record

ArticleMolecular genetics and metabolism reports2025

Lethal neonatal acidosis: Multiomic investigation of a novel

Sonali Patel, Muhammad Zain-Ul-Abideen, Genevieve Guyol, Lance H Rodan, Casie A Genetti, Amy Z Ren, Philip Connors, Patricia Davenport, Ruby Bartolome, Inderneel Sahai and 2 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Sonali PatelDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.
Muhammad Zain-Ul-AbideenDivision of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.
Genevieve GuyolDivision of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.
Lance H RodanThe Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.
Casie A GenettiThe Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.
Amy Z RenCenter for Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
Philip ConnorsDepartment of Obstetrics and Gynecology, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.
Patricia DavenportDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.
Ruby BartolomeDivision of Newborn Medicine, Department of Pediatrics, Boston Medical Center and Boston University Chobanian & Avedisian School of Medicine, Boston, MA, United States of America.
Inderneel SahaiNew England Newborn Screening Program, Department of Pediatrics UMass University Medical School, Worcester, MA 01605-2300, United States of America.
Vijay S GaneshDepartment of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, United States of America.
Monica H WojcikDivision of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.

Funding

Integrating multiomic analyses for gene discovery andgenetic diagnosis of Mendelian myopathiesK23AR083505 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Vijay S Ganesh · 2024 to 2026
$522k
NIAMS NIH HHS K23 AR083505
6 · The paper itself

Abstract

HIBCH (3-Hydroxyisobutyryl-CoA hydrolase) deficiency is a rare, autosomal recessive inborn error of metabolism caused by pathogenic variants in

Indexed as

AcidosisExome sequencingGenomic autopsyHIBCHMultiomicNeonatalTranscriptomic

Identifiers

PMID40959693
PMCPMC12433796

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.