Evidence map›Paper›PMID 34788986›Full record

ArticleHaematologica2022

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.

Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini and 15 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Haematologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
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

8 citing papers in PubMed.

  1. Review
  2. Review
  3. [Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Review
  4. Article
  5. Review
  6. Hemostatic defects in congenital disorders of glycosylation.Research and practice in thrombosis and haemostasis · 2023
    Article
  7. Article
  8. 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

25 authors.

Roberta BottegaIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Antonio MarzolloPediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua, Italy; Fondazione Città della Speranza, Istituto di Ricerca Pediatrica, Via Ricerca Scientifica, 4, 35127, Padua.
Maddalena MarinoniMaternal and Child Department, F. Del Ponte Hospital, Varese.
Emmanouil AthanasakisIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Ilaria PersicoDepartment of Medical Sciences, University of Trieste, Trieste, Italy; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona.
Anna Monica BiancoIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Michela FaleschiniIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Erica ValencicIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Daniela SimonciniMaternal and Child Department, F. Del Ponte Hospital, Varese.
Linda RossiniPediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
Fabio CorsoliniLABSIEM - Laboratory for the Study of Inborn Errors of Metabolism, Pediatric Clinic and Endocrinology, Istituto Giannina Gaslini, Genova.
Martina La BiancaIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Giuseppe RobustelliMaternal and Child Department, F. Del Ponte Hospital, Varese.
Maria GabelliPediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
Massimo AgostiMaternal and Child Department, F. Del Ponte Hospital, Varese.
Alessandra BiffiPediatric Hematology, Oncology and Stem Cell Transplant Division, Padua University Hospital, Via Giustiniani 3, 35128 Padua.
Paolo GrottoPediatric Department, Hospital of Treviso - Oderzo, Treviso.
Valeria BozziBiotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
Patrizia NorisBiotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia, Italy; Department of Internal Medicine and Medical Therapy, University of Pavia, Pavia.
Alberto B BurlinaDivision of Inherited Metabolic Diseases, Regional Center for Expanded Neonatal Screening Department of Women and Children's Health, University Hospital of Padova, Padova.
Adamo Pio D'AdamoIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste.
Alberto TommasiniIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste.
Flavio FaletraIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Annalisa PastoreKing's College London, Dept. of Clinical Neuroscience, Denmark Hill Campus, London, United Kingdom; European Synchrotron Radiation Facility 71, Grenoble.
Anna SavoiaIstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. anna.savoia@burlo.trieste.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

ThrombocytopeniaAdenosine DiphosphateHumansMutationAdenosine Diphosphate

Identifiers

PMID34788986
PMCPMC8883527

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.