Evidence map›Paper›PMID 36774919›Full record

ReviewMolecular genetics and metabolism2023

Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.

Denise Salazar, Karen M Kloke, Rubén Bonilla Guerrero, Carlos R Ferreira, Nenad Blau

Open access · greenAbstract readReview
In one paragraph

Review in Molecular genetics and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.9field-weighted citation impact, top 15% 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

10 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Cardiolipin preserves TNature metabolism · 2026
    Article
  3. RNA-Based Therapies for Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026
    Review
  4. Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. Review
  10. Review
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

5 authors at 4 institutions in 2 countries.

Denise SalazarQuest Diagnostics Nichols Institute, San Juan Capistrano, CA, United States of America. Electronic address: Denise.z.salazar@questdiagnostics.com.
Karen M KlokeMayo Clinic Laboratories, Rochester, MN, United States of America. Electronic address: Kloke.Karen@mayo.edu.
Rubén Bonilla GuerreroNexsun Laboratories, Irvine, CA, United States of America. Electronic address: rbonilla@nexsunlabs.com.
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address: carlos.ferreira@nih.gov.
Nenad BlauDivision of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Mayo Clinic in Florida · USNational Institutes of Health · USQuest Diagnostics (United States) · USUniversity Children's Hospital Zurich · CH

Funding

Skeletal GenomicsZIAHG200407 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI FERREIRA, CARLOS · 2020 to 2024
$3.7M
Intramural NIH HHS ZIA HG200407
6 · The paper itself

Abstract

Inherited metabolic disorders presenting with gastrointestinal (GI) symptoms are characterized by the dysfunction of the esophagus, stomach, small and large intestines, and pancreas. We have summarized associations of signs and symptoms in 339 inherited metabolic diseases presenting with GI symptoms. Feeding difficulties represent the most common abnormality reported for IMDs with GI involvement (37%) followed by intestinal problems (30%), vomiting (22%), stomach and pancreas involvement (8% each), and esophagus involvement (4%). This represents the eleventh of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Indexed as

Gastrointestinal DiseasesMetabolic DiseasesHumansEsophagusIntestinal problemsPancreasStomachVomiting

Identifiers

PMID36774919
PMCPMC10509718
OpenAlexW4318677287

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.