Possible mechanisms for sensorineural hearing loss and deafness in patients with propionic acidemia
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DOI: 10.1186/s13023-017-0585-5
Abstract: Propionic acidemia is an inborn error of metabolism caused by deficiency of the mitochondrial enzyme propionyl-CoA carboxylase. Sensorineural deafness and severe hearing loss have been described as long-term complications of this disease, however, the mechanism… read more here.
Keywords: hearing loss; sensorineural hearing; patients propionic; propionic acidemia ... See more keywords
Immunological Memory and Affinity Maturation After Vaccination in Patients With Propionic Acidemia
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DOI: 10.3389/fimmu.2022.774503
Abstract: Earlier studies have recommended routine childhood immunization in patients with propionic acidemia (PA); however, the literature presents insufficient data on the response to vaccines, notably specific IgG concentrations and avidity maturation, after measles, mumps, rubella… read more here.
Keywords: propionic acidemia; maturation; immunological memory; igg concentrations ... See more keywords
[Phenotypes and genotypes of 78 patients with propionic acidemia].
Sign Up to like & getrecommendations! Published in 2022 at "Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]"
DOI: 10.3760/cma.j.cn112150-20220620-00630
Abstract: Objective: Propionic acidemia is a rare inherited metabolic disorder caused by propionyl CoA carboxylase (PCC) deficiency. This study aims to analyze the clinical characteristics and gene variations of Chinese patients with propionic acidemia, and to… read more here.
Keywords: onset; acidemia; phenotypes genotypes; patients propionic ... See more keywords