Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain.

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.

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.

Who cites it

5 citing papers in PubMed.

1. Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy.Science advances · 2022
   Article
2. Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis.Journal of pediatric genetics · 2020
   Article
3. High-risk screening for Gaucher disease in patients with neurological symptoms.Journal of human genetics · 2018
   Article
4. Gaucher disease.Journal of clinical and experimental hepatology · 2014
   Review
5. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.Journal of medical genetics · 1998
   Article

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

Authors and funding

8 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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