Evidence map›Paper›PMID 31249784›Full record

ArticleMolecular genetics and metabolism reports2019

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report.

Dominik Soll, Dominik Spira, Tim Hollstein, Linus Haberbosch, Ilja Demuth, Elisabeth Steinhagen-Thiessen, Thomas Bobbert, Joachim Spranger, Ursula Kassner

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

Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

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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

9 authors at 3 institutions in 1 country.

Dominik SollCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Dominik SpiraCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Tim HollsteinCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Linus HaberboschCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Ilja DemuthCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Elisabeth Steinhagen-ThiessenCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Thomas BobbertCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Joachim SprangerCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Ursula KassnerCharité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Lipid Clinic, Interdisciplinary Metabolism Center, Germany.
Charité - Universitätsmedizin Berlin · DEHumboldt-Universität zu Berlin · DEFreie Universität Berlin · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (

Indexed as

ALT, Alanine aminotransferaseAST, Aspartate aminotransferaseCholesteryl ester storage diseaseHDL-C, High-density lipoprotein cholesterolLALD, Lysosomal acid lipase deficiencyLALD registryLAL, Lysosomal acid lipaseLDL-C, Low-density lipoprotein cholesterolLIPA, Lysosomal acid lipase ALysosomal acid lipase deficiency (LALD)SA, Sebelipase alfaSebelipase alfa (Kanuma™)

Identifiers

PMID31249784
PMCPMC6587018
OpenAlexW2951969211

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.