Evidence map›Paper›PMID 38736633›Full record

ArticleJIMD reports2024

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava

Abstract readCase Reports
In one paragraph

Article in JIMD reports, 2024. 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
–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

3 citing papers in PubMed.

  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

5 authors.

Inez BosnyakDepartment of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Mustafa SadekDepartment of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Wasantha RanatungaDepartment of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Tamas KoziczDepartment of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Eva MoravaDepartment of Clinical Genomics Mayo Clinic Rochester Minnesota USA.ORCID https://orcid.org/0000-0001-7441-700X

Funding

Pilot and Feasibility CoreU54NS115198 · NINDS · MAYO CLINIC ROCHESTER · PI MORAVA-KOZICZ, EVA · 2019 to 2023
$8.2M
NINDS NIH HHS U54 NS115198
6 · The paper itself

Abstract

ALG1-CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N-acetylglucosamine (GlcNAc

Indexed as

ALG1CDGcongenital disorders of glycosylationtransferrin

Identifiers

PMID38736633
PMCPMC11078713

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.