Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12370
Abstract: Isolated methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are rare inherited metabolic diseases. Six years ago, a detailed evaluation of the available evidence on diagnosis and management of these disorders has been published for the first… read more here.
Keywords: acidaemia; methylmalonic acidaemia; propionic acidaemia; diagnosis management ... See more keywords
G260 Liver transplantation in propionic acidaemia: a single centre experience in the UK
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-rcpch.252
Abstract: Background Liver transplantation for patients with Propionic Acidaemia (PA) remains a therapeutic option. Method Retrospective review of patients with PA who underwent liver transplantation at a tertiary liver centre between 1995 and 2015. Results Fourteen… read more here.
Keywords: liver transplantation; transplantation; centre; propionic acidaemia ... See more keywords
Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol
Sign Up to like & getrecommendations! Published in 2022 at "Antioxidants"
DOI: 10.3390/antiox11081588
Abstract: Propionic acidaemia (PA) is an innate error of metabolism involving a deficiency in the enzyme propionyl-CoA carboxylase. Better control of acute decompensation episodes together with better treatment and monitoring have improved the prognosis of patients… read more here.
Keywords: treatment; propionic acidaemia; citrate; plasma coq10 ... See more keywords