A Korean Female Patient with Thiamine-responsive Pyruvate Dehydrogenase Complex Deficiency Due to a Novel Point Mutation (Y161C)in the PDHA1 Gene

Pyruvate dehydrogenase complex (PDHC) deficiency is mostly due to mutations in the X-linked E1α subunit gene (PDHA1). Some of the patients with PDHC deficiency showed clinical improvements with thiamine treatment. We report the results of biochemical and molecular analysis in a female patient with l...

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Detalles Bibliográficos
Autores principales: Lee, Eun-Ha, Ahn, Mi-Sun, Hwang, Jin-Soon, Ryu, Kyung-Hwa, Kim, Sun-Jun, Kim, Sung-Hwan
Formato: Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2006
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721986/
https://www.ncbi.nlm.nih.gov/pubmed/17043409
http://dx.doi.org/10.3346/jkms.2006.21.5.800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721986/
https://www.ncbi.nlm.nih.gov/pubmed/17043409
http://dx.doi.org/10.3346/jkms.2006.21.5.800

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