Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect

Primary systemic carnitine deficiency is caused by homozygous or compound heterozygous mutation in the SLC22A5 gene on chromosome 5q31. The most common presentations are in infancy and early childhood with either metabolic decompensation or cardiac and myopathic manifestations. We report a case of 9...

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Detalles Bibliográficos
Autores principales: Mutlu-Albayrak, Hatice, Bene, Judit, Oflaz, Mehmet Burhan, Tanyalçın, Tijen, Çaksen, Hüseyin, Melegh, Bela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436458/
https://www.ncbi.nlm.nih.gov/pubmed/26075114
http://dx.doi.org/10.1155/2015/259627

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436458/
https://www.ncbi.nlm.nih.gov/pubmed/26075114
http://dx.doi.org/10.1155/2015/259627

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