Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia

BACKGROUND: Cardiomyopathy is a known complication of organic acidemias but generally thought to be secondary to poor metabolic control. METHODS: Our patient was found through biochemical testing and Sanger sequencing to harbor an Icelandic founder mutation: NM_052845.4(MMAB):c.571C > T(p.Arg191T...

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Detalles Bibliográficos
Autores principales: Agnarsdóttir, Dagbjört, Sigurjónsdóttir, Vaka Kristín, Emilsdóttir, Arna Rut, Petersen, Erna, Sigfússon, Gunnlaugur, Rögnvaldsson, Ingólfur, Franzson, Leifur, Vernon, Hilary, Bjornsson, Hans Tomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266587/
https://www.ncbi.nlm.nih.gov/pubmed/35712814
http://dx.doi.org/10.1002/mgg3.1971

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266587/
https://www.ncbi.nlm.nih.gov/pubmed/35712814
http://dx.doi.org/10.1002/mgg3.1971

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