![PDF] Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect | Semantic Scholar PDF] Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/f809e8360ccae2c9351b4387e3de330e41978c2d/2-Figure1-1.png)
PDF] Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect | Semantic Scholar
![Molecules | Free Full-Text | SLC22A5 (OCTN2) Carnitine Transporter—Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer Molecules | Free Full-Text | SLC22A5 (OCTN2) Carnitine Transporter—Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer](https://pub.mdpi-res.com/molecules/molecules-25-00014/article_deploy/html/images/molecules-25-00014-ag-550.jpg?1579223157)
Molecules | Free Full-Text | SLC22A5 (OCTN2) Carnitine Transporter—Indispensable for Cell Metabolism, a Jekyll and Hyde of Human Cancer
![Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects | Genetics in Medicine Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects | Genetics in Medicine](https://media.springernature.com/m685/springer-static/image/art%3A10.1097%2FGIM.0b013e3181c5e6f7/MediaObjects/41436_2010_Article_BFgim20103_Fig1_HTML.jpg)
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects | Genetics in Medicine
![A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features | BMC Cardiovascular Disorders | Full Text A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features | BMC Cardiovascular Disorders | Full Text](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12872-023-03676-z/MediaObjects/12872_2023_3676_Fig1_HTML.png)
A novel pathogenic variant in the carnitine transporter gene, SLC22A5, in association with metabolic carnitine deficiency and cardiomyopathy features | BMC Cardiovascular Disorders | Full Text
![Molecular investigation in Chinese patients with primary carnitine deficiency - Zhang - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library Molecular investigation in Chinese patients with primary carnitine deficiency - Zhang - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/a53d2ee5-cb5f-41b4-aead-a10922c904fa/mgg3901-toc-0001-m.jpg?trick=1700292579122)
Molecular investigation in Chinese patients with primary carnitine deficiency - Zhang - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![Frontiers | Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area Frontiers | Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area](https://www.frontiersin.org/files/Articles/429427/fped-07-00050-HTML/image_m/fped-07-00050-g005.jpg)
Frontiers | Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area
![Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports](https://www.spandidos-publications.com/article_images/etm/20/5/etm-20-05-09246-g04.jpg)
Primary carnitine deficiency in two sisters with intractable epilepsy and reversible metabolic cardiomyopathy: Two case reports
![DNA sequencing of exon 1 from the SLC22A5 gene (A) demonstrating the... | Download Scientific Diagram DNA sequencing of exon 1 from the SLC22A5 gene (A) demonstrating the... | Download Scientific Diagram](https://www.researchgate.net/publication/351846701/figure/fig1/AS:1027362028257280@1621953603171/DNA-sequencing-of-exon-1-from-the-SLC22A5-gene-A-demonstrating-the-patient-to-be-a.png)
DNA sequencing of exon 1 from the SLC22A5 gene (A) demonstrating the... | Download Scientific Diagram
![PDF] 20 Years After Discovery of the Causative Gene of Primary Carnitine Deficiency, How Much More Have We Known About the Disease? | Semantic Scholar PDF] 20 Years After Discovery of the Causative Gene of Primary Carnitine Deficiency, How Much More Have We Known About the Disease? | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/651ba513a258b0a57dc15c728599dfc387fb11ea/3-Figure1-1.png)
PDF] 20 Years After Discovery of the Causative Gene of Primary Carnitine Deficiency, How Much More Have We Known About the Disease? | Semantic Scholar
![A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency - Ferdinandusse - 2019 - Human Mutation - Wiley Online Library A mutation creating an upstream translation initiation codon in SLC22A5 5′UTR is a frequent cause of primary carnitine deficiency - Ferdinandusse - 2019 - Human Mutation - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/d9abe411-68bd-49a7-9509-8ed4c5ad7fd5/humu.v40.10.cover.jpg?trick=1702492644546)