GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

Abstract Background Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are r...

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Autores principales: Bindu Parayil Sankaran, Sachin Gupta, Michel Tchan, Beena Devanapalli, Yusof Rahman, Peter Procopis, Kaustuv Bhattacharya
Formato: article
Lenguaje:EN
Publicado: BMC 2021
Materias:
GLRX5
Fe-S cluster biogenesis
Non ketotic hyperglycinemia
Spastic paraplegia
SPON
Lipoic acid
Medicine
R
Acceso en línea:https://doaj.org/article/ae0e69e797854fe5a5b73d0e5e8ba192
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https://doaj.org/article/ae0e69e797854fe5a5b73d0e5e8ba192

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