Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction

Sengers syndrome is a rare autosomal recessive mitochondrial disease characterized by lactic acidosis, hypertrophic cardiomyopathy and bilateral cataracts. We present here a case of neonatal demise, within the first day of life, who initially presented with severe lactic acidosis, with evidence of b...

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Detalles Bibliográficos
Autores principales: Beck, David B., Cusmano-Ozog, Kristina, Andescavage, Nickie, Leon, Eyby
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904566/
https://www.ncbi.nlm.nih.gov/pubmed/29682452
http://dx.doi.org/10.3233/TRD-180020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904566/
https://www.ncbi.nlm.nih.gov/pubmed/29682452
http://dx.doi.org/10.3233/TRD-180020

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