Evidence map›Paper›PMID 29702557›Full record

ReviewInternational journal of molecular sciences2018

CDG Therapies: From Bench to Bedside.

Sandra Brasil, Carlota Pascoal, Rita Francisco, Dorinda Marques-da-Silva, Giuseppina Andreotti, Paula A Videira, Eva Morava, Jaak Jaeken, Vanessa Dos Reis Ferreira

Abstract readReview
In one paragraph

Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
44citing papers in PubMed, 1 pooled it
–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

44 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Trial
  3. GARP Complex in Golgi Physiology.Sub-cellular biochemistry · 2026
    Review
  4. Article
  5. SLC10A7 regulates O-GalNAc glycosylation and CaCellular and molecular life sciences : CMLS · 2025
    Article
  6. Frontiers in genetics · 2025
    Article
  7. Review
  8. Article
  9. Observational
  10. Article
  11. Review
  12. Article
  13. Role of GARP Vesicle Tethering Complex in Golgi Physiology.International journal of molecular sciences · 2023
    Review
  14. [Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023
    Review
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review
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.

Sandra BrasilPortuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. s.arduim@gmail.com.ORCID 0000-0003-3977-7872
Carlota PascoalPortuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. carlotapascoal@gmail.com.
Rita FranciscoPortuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. rab.francisco@campus.fct.unl.pt.ORCID 0000-0002-4398-3401
Dorinda Marques-da-SilvaPortuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. dorindams@gmail.com.
Giuseppina AndreottiIstituto di Chimica Biomolecolare-Consiglio Nazionale delle Ricerche (CNR), 80078 Pozzuoli, Italy. gandreotti@icb.cnr.it.ORCID 0000-0002-1594-0156
Paula A VideiraPortuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. p.videira@fct.unl.pt.ORCID 0000-0001-5987-2485
Eva MoravaProfessionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. emoravakozicz@tulane.edu.
Jaak JaekenProfessionals and Patient Associations International Network (CDG & Allies-PPAIN), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. jaak.jaeken@kuleuven.be.
Vanessa Dos Reis FerreiraPortuguese Association for Congenital Disorders of Glycosylation (CDG), Departamento Ciências da Vida, Faculdade de Ciências e Tecnologia, Universidade NOVA de Lisboa, 2820-287 Lisboa, Portugal. sindromecdg@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital disorders of glycosylation (CDG) are a group of genetic disorders that affect protein and lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 100 different disorders have been reported and the number is rapidly increasing. Since glycosylation is an essential post-translational process, patients present a large range of symptoms and variable phenotypes, from very mild to extremely severe. Only for few CDG, potentially curative therapies are being used, including dietary supplementation (e.g., galactose for PGM1-CDG, fucose for SLC35C1-CDG, Mn

Indexed as

Dietary SupplementsGenetic TherapyOrgan TransplantationAnimalsBiomarkersClinical Trials as TopicCongenital Disorders of GlycosylationDisease Models, AnimalFucoseGalactoseGlycosylationHumansMannoseBiomarkersFucoseGalactoseMannoseanimal modelsbiomarkersclinical trialscongenital disorders of glycosylation (CDG)diagnosisdietary supplementationgalactosemannosepharmacological chaperonestherapy

Identifiers

PMID29702557
PMCPMC5983582

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.