Evidence map›Paper›PMID 31844629›Full record

ArticleMolecular genetics and metabolism reports2019

A case of motor neuron involvement in Gaucher disease.

V Pozzilli, F Giona, M Ceccanti, C Cambieri, V Frasca, E Onesti, L Libonati, S Di Bari, I Fiorini, L Cardarelli and 2 more

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 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 32% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  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

12 authors at 1 institution in 1 country.

V PozzilliRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
F GionaHaematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
M CeccantiRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
C CambieriRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
V FrascaRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
E OnestiRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
L LibonatiRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
S Di BariRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
I FioriniRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
L CardarelliHaematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
M SantopietroHaematology, Department of Translational and Precision Medicine, Sapienza University, Rome, Italy.
M InghilleriRare Neuromuscular Diseases Centre, Department of Human Neurosciences, Sapienza University, Rome, Italy.
Sapienza University of Rome · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher disease (GD) is a genetic disorder characterized by an accumulation of glucosylceramide in cells in the monocyte-macrophage system. We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient.

Indexed as

Amyotrophic lateral sclerosisGaucher diseaseMotor neuron disease

Identifiers

PMID31844629
PMCPMC6895677
OpenAlexW2986226719

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.