Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12188
Abstract: Soft‐tissue masses are rarely seen in Gaucher disease. We previously reported a case of a 30‐year‐old patient with Gaucher disease type 3, receiving β‐glucocerebrosidase enzyme replacement therapy (ERT), who presented with slowly enlarging masses infiltrated… read more here.
Keywords: reduction; soft tissue; reduction therapy; substrate reduction ... See more keywords
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1371
Abstract: In GM1 gangliosidosis the lack of function of β‐galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature… read more here.
Keywords: patients gm1; gangliosidosis; reduction therapy; substrate reduction ... See more keywords
Gaucher Disease Type I and III Responded Well to Substrate Reduction Therapy Using Eliglustat.
Sign Up to like & getrecommendations! Published in 2023 at "Internal medicine"
DOI: 10.2169/internalmedicine.1425-22
Abstract: Gaucher disease (GD) causes the accumulation of glucocerebrosides in various organs, resulting in hepatosplenomegaly, anemia, decreased platelet counts, and bone disorders. Glucosylsphingosine accumulates in the brain and causes central nervous system (CNS) disorders. GD can… read more here.
Keywords: substrate reduction; type iii; therapy; type ... See more keywords
Substrate Reduction Therapy for Krabbe Disease: Exploring the Repurposing of the Antibiotic D-Cycloserine
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.807973
Abstract: Krabbe disease is a lysosomal storage disease that is caused by a deficiency in galactosylceramidase. Infantile onset disease is the most common presentation, which includes progressive neurological deterioration with corresponding demyelination, development of globoid cells,… read more here.
Keywords: therapy; cycloserine; twitcher mice; disease ... See more keywords