ArticleNPJ genomic medicine2019
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Article in NPJ genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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.
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.
Who cites it
14 citing papers in PubMed, 29 citations in OpenAlex.
- A Slc5a6-deficient mouse model reveals metabolically driven cardiomyopathy with therapeutic potential for vitamin-based intervention.JCI insight · 2026Article
- Structural basis for multivitamin recognition and transport by human SMVT.Nature communications · 2026Article
- Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy.European journal of human genetics : EJHG · 2024Article
- Biotin Homeostasis and Human Disorders: Recent Findings and Perspectives.International journal of molecular sciences · 2024Review
- A new case of sodium-dependent multivitamin transporter defect occurring as a life-threatening condition responsive to early vitamin supplementation and literature review.Molecular genetics & genomic medicine · 2024Review
- Recurrent "outsider" intronic variation in theFrontiers in genetics · 2024Article
- Sodium-dependent multivitamin transporter defects: a rare cause of recurrent vomiting and faltering growth.Frontline gastroenterology · 2023Article
- Effect of Chronic Cadmium Exposure on Brain and Liver Transporters and Drug-Metabolizing Enzymes in Male and Female Mice Genetically Predisposed to Alzheimer's Disease.Drug metabolism and disposition: the biological fate of chemicals · 2022Article
- Evolution and developmental expression of the sodium-iodide symporter (Evolutionary applications · 2022Article
- A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.Cold Spring Harbor molecular case studies · 2022Article
- The Iodide Transport Defect-Causing Y348D Mutation in the NaThyroid : official journal of the American Thyroid Association · 2021Article
- Treatable inherited metabolic disorders causing intellectual disability: 2021 review and digital app.Orphanet journal of rare diseases · 2021Review
- Sodium-coupled glucose transport, the SLC5 family, and therapeutically relevant inhibitors: from molecular discovery to clinical application.Pflugers Archiv : European journal of physiology · 2020Review
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from 12 to 14 months of age. Using whole exome sequencing, compound heterozygous variants were identified in
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.