Evidence map›Paper›PMID 32740531›Full record

ArticleJournal of pediatric gastroenterology and nutrition2020

A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy.

Joseph J Shen, Jessica L Davis, Xinying Hong, Fred H Laningham, Michael H Gelb, Grace E Kim

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of pediatric gastroenterology and nutrition, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. The role of clinical response to treatment in determining pathogenicity of genomic variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
    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

6 authors at 4 institutions in 1 country.

Joseph J ShenDepartment of Pediatrics, UCSF Fresno, Fresno.
Jessica L DavisDepartment of Pathology, University of California San Francisco, San Francisco, CA.
Xinying HongDepartment of Chemistry, University of Washington, Seattle, WA.
Fred H LaninghamDepartment of Radiology, Valley Children's Hospital, Madera, CA.
Michael H GelbDepartment of Chemistry, University of Washington, Seattle, WA.
Grace E KimDepartment of Pathology, University of California San Francisco, San Francisco, CA.
Children's Hospital Central California · USUniversity of Washington · USOregon Health & Science University · USUniversity of California, San Francisco · US

Funding

Multiplex Analysis of Inborn Errors of MetabolismR01DK067859 · NIDDK · UNIVERSITY OF WASHINGTON · PI GELB, MICHAEL H · 2003 to 2025
$9.8M
NIDDK NIH HHS R01 DK067859
6 · The paper itself

Abstract

Lysosomal acid lipase (LAL) deficiency, or cholesterol ester storage disease, is a disorder affecting the breakdown of cholesterol esters and triglycerides within lysosomes. Clinical findings include hepatomegaly, hepatic dysfunction, and dyslipidemia with a wide range of phenotypic variability and age of onset. The available clinical and molecular information of the patient presented herein was consistent with a diagnosis of LAL deficiency, but her LAL activity assay repeatedly showed normal or borderline low results. Her response to enzyme replacement therapy and demonstrable deficiency on a newer specific enzymatic assay ultimately confirmed her diagnosis of LAL deficiency.

Indexed as

Cholesterol Ester Storage DiseaseSterol EsteraseWolman DiseaseFemaleHumansSebelipase alfaSterol Esterase

Identifiers

PMID32740531
PMCPMC8045466
OpenAlexW3046289669

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.