Frontiers | Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China
![PDF] Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/f809e8360ccae2c9351b4387e3de330e41978c2d/4-Table2-1.png "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
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency | PNAS
SLC22A5 Gene - GeneCards | OCTN2 Protein | OCTN2 Antibody
Carnitine transport and fatty acid oxidation. - Abstract - Europe PMC
L -Carnitine and its carrier SLC22A5 mediated sensing and signaling | Download Scientific Diagram
SLC22A5 - Wikidata
SLC22A5 gene | Semantic Scholar
Graphic presentation of mutations/unclassified missense variant... | Download Scientific Diagram
Phenotype and genotype variation in primary carnitine deficiency - Genetics in Medicine
SLC22A5 - an overview | ScienceDirect Topics
Schematic representation of the molecular mechanism by which estrogen... | Download Scientific Diagram
Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation
![Hong Kong Journal of Paediatrics [HK J Paediatr (New Series) 2020;25:23-29]](https://www.hkjpaed.org/figure/2020;25;23-29-fig1.jpg "Hong Kong Journal of Paediatrics [HK J Paediatr (New Series) 2020;25:23-29]")
Hong Kong Journal of Paediatrics [HK J Paediatr (New Series) 2020;25:23-29]
Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects | Genetics in Medicine
SLC22A5 Gene - GeneCards | OCTN2 Protein | OCTN2 Antibody
IJMS | Free Full-Text | PGC-1α and MEF2 Regulate the Transcription of the Carnitine Transporter OCTN2 Gene in C2C12 Cells and in Mouse Skeletal Muscle
![PDF] SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/909337edf495a2114b24c3ca2e1929795e1cae59/3-Figure1-1.png "PDF] SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. | Semantic Scholar")
PDF] SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. | Semantic Scholar
Glioma cells survival depends both on fatty acid oxidation and on functional carnitine transport by SLC22A5 - Juraszek - 2021 - Journal of Neurochemistry - Wiley Online Library
IJMS | Free Full-Text | PGC-1α and MEF2 Regulate the Transcription of the Carnitine Transporter OCTN2 Gene in C2C12 Cells and in Mouse Skeletal Muscle
Phenotype and genotype variation in primary carnitine deficiency | Genetics in Medicine
