Review in Human mutation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing 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.
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
14 authors.
Kristina FalkensteinPediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.ORCID 0009-0004-1488-8079
Lukas HoerenPediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.ORCID 0009-0005-3353-9197
Frauke KikulBiochemistry Center (BZH), Heidelberg University, Heidelberg, Germany.ORCID 0009-0006-4561-2782
Gernot PoschetPlant Molecular Biology, Centre for Organismal Studies (COS), Heidelberg University, Heidelberg, Germany.ORCID 0000-0002-5344-0865
Christian LüchtenborgBiochemistry Center (BZH), Heidelberg University, Heidelberg, Germany.ORCID 0000-0002-6770-6046
Ines B BrechtGeneral Pediatrics Hematology/Oncology, University Children's Hospital Tübingen, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-7973-3300
Ruth FalbInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Darja GauckInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.ORCID 0000-0001-6033-4836
Andreas HeckerPediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.ORCID 0000-0001-9701-7586
Nastassja HimmelreichPediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.ORCID 0000-0002-1895-625X
Jürgen G OkunPediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.ORCID 0000-0003-2975-1054
Britta BrüggerBiochemistry Center (BZH), Heidelberg University, Heidelberg, Germany.ORCID 0000-0002-3477-8270
Christian ThielPediatric I, Center for Pediatric and Adolescent Medicine, Medical Faculty of Heidelberg, Heidelberg, Germany.ORCID 0000-0001-6419-8747
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
SLC35A1-CDG is a very rare type of congenital disorders of glycosylation (CDG) with only five cases known to date. Here, we review the literature and present new data from a sixth patient carrying the uncharacterized variant c.133A>G; p.Thr45Ala in the
Indexed as
Congenital Disorders of GlycosylationEnergy MetabolismLipid MetabolismMutation, MissenseBiomarkersFemaleFibroblastsGlycosylationHEK293 CellsHumansMaleNucleotide Transport ProteinsBiomarkersNucleotide Transport ProteinsSLC35A1 protein, humanCDG-IICMP-Neu5Ac transportercongenital disorders of glycosylationGolgi sialylationprotein instabilitySLC35A1SLC35A1-CDG
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.
A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers. · full record | OpenQuestion