Evidence map›Paper›PMID 39544690›Full record

ArticleJIMD reports2024

Reduced guanidinoacetate in plasma of patients with autosomal dominant Fanconi syndrome due to heterozygous P341L

Ignacio Portales-Castillo, Rhea Singal, Anastasia Ambrose, Jong Hee Song, Minsoo Son, Young Ah Goo, Wen Zhou, Avram Z Traum, Ariella Coler-Reilly, Benjamin D Humphreys and 6 more

Abstract read
In one paragraph

Article in JIMD reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

16 authors.

Ignacio Portales-CastilloDepartment of Medicine, Division of Nephrology Washington University in St. Louis St. Louis Missouri USA.ORCID https://orcid.org/0000-0002-3598-6207
Rhea SingalBone and Mineral Division Washington University in St. Louis St. Louis Missouri USA.
Anastasia AmbroseDepartment of Medical Genetics Faculty of Medicine and Dentistry University of Alberta Edmonton Alberta Canada.
Jong Hee SongMass Spectrometry Technology Access Center at the McDonnell Genome Institute Washington University School of Medicine St. Louis Missouri USA.
Minsoo SonMass Spectrometry Technology Access Center at the McDonnell Genome Institute Washington University School of Medicine St. Louis Missouri USA.
Young Ah GooMass Spectrometry Technology Access Center at the McDonnell Genome Institute Washington University School of Medicine St. Louis Missouri USA.
Wen ZhouEndocrine Unit Massachusetts General Hospital, and Harvard Medical School Boston Massachusetts USA.
Avram Z TraumDivision of Nephrology Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.
Ariella Coler-ReillyBone and Mineral Division Washington University in St. Louis St. Louis Missouri USA.ORCID https://orcid.org/0000-0001-8549-6559
Benjamin D HumphreysDepartment of Medicine, Division of Nephrology Washington University in St. Louis St. Louis Missouri USA.ORCID https://orcid.org/0000-0002-6420-8703
Roberto CivitelliBone and Mineral Division Washington University in St. Louis St. Louis Missouri USA.ORCID https://orcid.org/0000-0003-4076-4315
Harald JüppnerEndocrine Unit Massachusetts General Hospital, and Harvard Medical School Boston Massachusetts USA.ORCID https://orcid.org/0000-0001-7491-0515
Andrew L LundquistDivision of Nephrology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA.
Peter SeresDepartment of Radiology and Diagnostic Imaging, Faculty of Medicine and Dentistry University of Alberta Edmonton Alberta Canada.ORCID https://orcid.org/0000-0002-8812-2234
Andrew S AllegrettiDivision of Nephrology Massachusetts General Hospital, Harvard Medical School Boston Massachusetts USA.ORCID https://orcid.org/0000-0001-9416-6623
Saadet Mercimek-AndrewsDepartment of Medical Genetics Faculty of Medicine and Dentistry University of Alberta Edmonton Alberta Canada.ORCID https://orcid.org/0000-0001-8396-6764

Funding

Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI TIMOTHY J. EBERLEIN · 2001 to 2026
$128.0M
WU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8M
Tissue Phenotyping CoreP01DK011794 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI JUEPPNER, HARALD W. · 1986 to 2023
$44.4M
WU P&FP30DK020579 · NIDDK · WASHINGTON UNIVERSITY · PI Clay F. Semenkovich · 2013 to 2026
$27.1M
Research Project 2: Molecular analysis of developing post-natal mouse kidney in health and FSGSP50DK133943 · NIDDK · WASHINGTON UNIVERSITY · PI Sanjay Jain · 2022 to 2026
$4.9M
National Institute of Diabetes and Digestive and Kidney Diseases ATLAS (D2K-ATLAS) Center as an accessible, comprehensive data portfolio for renal and genitourinary development and diseaseU24DK135157 · NIDDK · BRIGHAM AND WOMEN'S HOSPITAL · PI JAIN, SANJAY, VALERIUS, MICHAEL TODD · 2022 to 2023
$3.4M
Personalizing Therapies for Acute Kidney Injury in CirrhosisK23DK128567 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI Andrew S Allegretti · 2022 to 2026
$982k
NCATS NIH HHS UL1 TR002345NCI NIH HHS P30 CA091842NIDDK NIH HHS K23 DK128567NIDDK NIH HHS P01 DK011794NIDDK NIH HHS P30 DK020579NIDDK NIH HHS P50 DK133943NIDDK NIH HHS U24 DK135157
6 · The paper itself

Abstract

Autosomal dominant Fanconi syndrome due to a

Indexed as

arginine‐glycine amidinotransferase (AGAT)chronic kidney diseasecreatineFanconi syndromeGATMguanidinoacetatekidney organoids

Identifiers

PMID39544690
PMCPMC11558468

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.