Evidence map›Paper›PMID 39584041›Full record

ArticleMolecular genetics and metabolism reports2024

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou and 2 more

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

12 authors.

Theodoros GeorgiouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Olga GrafakouInborn Errors of Metabolism Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus.
Anna MalekkouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Emilia AthanasiouClinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.
Ioannis IoannouPaediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus.
Vivi CholevaOphthalmology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus.
Maria DionysiouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Gabriella MavrikiouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Anthi DemetriadouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Violetta AnastasiadouClinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus.
Anthi DrousiotouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Petros P PetrouBiochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the

Indexed as

CblCCobalaminHomocystinuriaMethylmalonic aciduria

Identifiers

PMID39584041
PMCPMC11585715

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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.