Cargando…
SARS-CoV-2 infection in a patient with propionic acidemia
We describe a 14-month-old boy, with a previous diagnosis of propionic acidemia (PA) by expanded newborn screening, who, admitted for a suspected metabolic crisis, tested positive for SARS-CoV-2. Since propionic acidemia was diagnosed, the patient has followed the recommended diet for this inborn er...
Autores principales: | Caciotti, Anna, Procopio, Elena, Pochiero, Francesca, Falliano, Silvia, Indolfi, Giuseppe, Donati, Maria Alice, Ferri, Lorenzo, Guerrini, Renzo, Morrone, Amelia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592193/ https://www.ncbi.nlm.nih.gov/pubmed/33115512 http://dx.doi.org/10.1186/s13023-020-01563-w |
Ejemplares similares
-
Management of methylmalonic acidemia (MMA) with N‐carbamylglutamate: A case report from Italy
por: Tubili, Flavia, et al.
Publicado: (2022) -
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly–Gly mutation causing loss of an Exonic Splicing Enhancer
por: Tonin, Rodolfo, et al.
Publicado: (2018) -
Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations
por: Ferri, Lorenzo, et al.
Publicado: (2016) -
Secondary Hemophagocytosis in Propionic Acidemia
por: Kasapkara, Cigdem Seher, et al.
Publicado: (2015) -
Prevalence of propionic acidemia in China
por: Zhang, Yixing, et al.
Publicado: (2023)