Evidence map›Paper›PMID 37600231›Full record

ArticleMolecular genetics and metabolism reports2023

Anna Malekkou, Athina Theodosiou, Angelos Alexandrou, Ioannis Papaevripidou, Carolina Sismani, Edwin H Jacobs, George J G Ruijter, Violetta Anastasiadou, Sofia Ourani, Emilia Athanasiou and 3 more

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

Article in Molecular genetics and metabolism reports, 2023. 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
0.4field-weighted citation impact, top 39% 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, 2 citations in OpenAlex.

  1. Review
  2. Mutation Spectrum ofInternational journal of molecular sciences · 2024
    Article
  3. Inherited metabolic disorders in Cyprus.Molecular genetics and metabolism reports · 2024
    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

13 authors at 3 institutions in 2 countries.

Anna MalekkouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Athina TheodosiouCytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Angelos AlexandrouCytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Ioannis PapaevripidouCytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Carolina SismaniCytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Edwin H JacobsCenter for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015, GD, Rotterdam, the Netherlands.
George J G RuijterCenter for Lysosomal and Metabolic Diseases, Department of Clinical Genetics, Erasmus University Medical Center, Dr. Molewaterplein 40, 3015, GD, Rotterdam, the Netherlands.
Violetta AnastasiadouClinical Genetics Department, Archbishop Makarios III Hospital, Korytsas 6, 2012 Nicosia, Cyprus.
Sofia OuraniClinical Genetics Department, Archbishop Makarios III Hospital, Korytsas 6, 2012 Nicosia, Cyprus.
Emilia AthanasiouClinical Genetics Department, Archbishop Makarios III Hospital, Korytsas 6, 2012 Nicosia, Cyprus.
Anthi DrousiotouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Olga GrafakouInborn Errors of Metabolism Clinic, Department of Pediatrics, Archbishop Makarios III Hospital, Korytsas 6, 2012 Nicosia, Cyprus.
Petros P PetrouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, P. O. Box 23462, 1683 Nicosia, Cyprus.
Cyprus Institute of Neurology and Genetics · CYArchbishop Makarios III Hospital · CYErasmus MC · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pompe disease is a rare metabolic myopathy caused by pathogenic variants affecting the activity of the lysosomal glycogen-degrading enzyme acid alpha-glucosidase (GAA). Impaired GAA function results in the accumulation of undegraded glycogen within lysosomes in multiple tissues but predominantly affects the skeletal, smooth and cardiac muscle. The degree of residual enzymatic activity appears to roughly correlate with the age of onset and the severity of the clinical symptoms. Here, we report four siblings in which the

Indexed as

Acid alpha glucosidaseCase reportExome sequencingGlycogen storage disorderPompe diseaseVariants

Identifiers

PMID37600231
PMCPMC10433214
OpenAlexW4385628477

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.