Leigh syndrome global patient registry: uniting patients and researchers worldwide

BACKGROUND: Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as stu...

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Detalles Bibliográficos
Autores principales: Zilber, Sophia, Woleben, Kasey, Johnson, Simon C., de Souza, Carolina Fischinger Moura, Boyce, Danielle, Freiert, Kevin, Boggs, Courtney, Messahel, Souad, Burnworth, Melinda J., Afolabi, Titilola M., Kayani, Saima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476366/
https://www.ncbi.nlm.nih.gov/pubmed/37667390
http://dx.doi.org/10.1186/s13023-023-02886-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476366/
https://www.ncbi.nlm.nih.gov/pubmed/37667390
http://dx.doi.org/10.1186/s13023-023-02886-0

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