Evidence map›Paper›PMID 32855188›Full record

ArticleAJNR. American journal of neuroradiology2020

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome.

K W Martin, N Weaver, K Alhasan, E Gumus, B R Sullivan, M Zenker, F Hildebrandt, J D Saba

2 registry-linked trialsOpen access · hybridAbstract readCase Reports
In one paragraph

Article in AJNR. American journal of neuroradiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 16% 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.

NCT04885179 recruitingnot on this mapstarted 2025, after this paper: background citation

Sphingosine Phosphate Lyase Insufficiency Syndrome - Observational Study and Patient Registry (International)

Typeobservational_patient_registrySponsorUniversity of California, San FranciscoRan2025 to 2028Enrolled120ConditionsSphingolipidoses, Enzyme DeficiencyArmsno intervention
NCT06669949 recruitingnot on this mapstarted 2025, after this paper: background citation

Natural History and Phenotypic Spectrum of Sphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)

Typeobservational_patient_registrySponsorUniversity of California, San FranciscoRan2025 to 2030Enrolled28ConditionsSphingosine Phosphate Lyase Insufficiency Syndrome (SPLIS)Armsno intervention
3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.

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  9. Combined novel homozygous variants in bothFrontiers in immunology · 2023
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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

8 authors at 8 institutions in 4 countries.

K W MartinFrom the Department of Radiology (K.W.M.), UCSF Benioff Children's Hospital Oakland, Oakland, California.ORCID 0000-0002-3265-0206
N WeaverDivision of Human Genetics (N.W.), Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.ORCID 0000-0002-3991-135X
K AlhasanDepartment of Pediatrics (K.A.), College of Medicine, King Saud University, Riyadh, Saudi Arabia.ORCID 0000-0002-4291-8536
E GumusDepartment of Medicine (E.G.), Harran University, Sanliurfa, Turkey.ORCID 0000-0001-9932-0730
B R SullivanDivision of Clinical Genetics (B.R.S.), Children's Mercy, Kansas City, Missouri.ORCID 0000-0002-8317-5003
M ZenkerInstitute of Genetics (M.Z.), Otto von Guericke Universitat, Magdeburg, Germany.ORCID 0000-0003-1618-9269
F HildebrandtDepartment of Pediatrics (F.H.), Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.ORCID 0000-0002-7130-0030
J D SabaUCSF Department of Pediatrics (J.D.S.), University of California, San Francisco, San Francisco, California Julie.Saba@ucsf.edu.ORCID 0000-0002-4894-919X
Boston Children's Hospital · USChildren's Mercy Hospital · USCincinnati Children's Hospital Medical Center · USHarran University · TRKing Saud University · SAOtto-von-Guericke-Universität Magdeburg · DEUCSF Benioff Children's Hospital · USUniversity of California, San Francisco · US

Funding

Identification and function of new genes causing childhood nephrotic syndromeR01DK076683 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HILDEBRANDT, FRIEDHELM · 2007 to 2021
$5.3M
Endogenous and Dietary Sphingolipids as Modulators of Inflammatory Bowel DiseaseR01DK115669 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SABA, JULIE D · 2018 to 2021
$1.8M
NIDDK NIH HHS R01 DK076683NIDDK NIH HHS R01 DK115669
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Aldehyde-LyasesBrainChildChild, PreschoolFemaleHumansInfantMagnetic Resonance ImagingMaleMetabolism, Inborn ErrorsMutationNephrotic SyndromeAldehyde-LyasesSGPL1 protein, human

Identifiers

PMID32855188
PMCPMC7661081
OpenAlexW3081914577

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.