ArticleHuman mutation2019
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.Journal of cellular and molecular medicine · 2026Pooled it
- Newborn Screening of Primary Carnitine Deficiency and Prenatal Genetic Diagnosis for a Recurrence-Risk Family.Molecular genetics & genomic medicine · 2026Article
- Genome-wide detection of human 5' UTR variants that impact protein translation.American journal of human genetics · 2026Article
- The role of untranslated region variants in Mendelian disease: a review.European journal of human genetics : EJHG · 2025Review
- The global prevalence and genetic spectrum of primary carnitine deficiency.BMC genomic data · 2025Article
- Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.Journal of medical genetics · 2023Article
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.JPGN reports · 2022Article
- Clinical characteristics of primary carnitine deficiency: A structured review using a case-by-case approach.Journal of inherited metabolic disease · 2022Review
- Intronic variants in inborn errors of metabolism: Beyond the exome.Frontiers in genetics · 2022Article
- Article
- Biochemical Markers for the Diagnosis of Mitochondrial Fatty Acid Oxidation Diseases.Journal of clinical medicine · 2021Review
- Newborn screening for carnitine transporter defect in Bavaria and the long-term follow-up of the identified newborns and mothers: Assessing the benefit and possible harm based on 19 ½ years of experience.Molecular genetics and metabolism reports · 2021Article
- Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports.Experimental and therapeutic medicine · 2020Article
- Organic Cation Transporters in Human Physiology, Pharmacology, and Toxicology.International journal of molecular sciences · 2020Review
- Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.International journal of neonatal screening · 2020Article
- A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.Human mutation · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary carnitine deficiency is caused by a defect in the active cellular uptake of carnitine by Na
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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.