Amyloidosis in a Patient With Congenital Neutropenia Because of G6PC3 Deficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002237
Abstract: Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency is a recently identified form of congenital neutropenia associated with developmental anomalies. The severity of neutropenia and the clinical spectrum are highly variable. Aside from infectious complications and extrahematologic… read more here.
Keywords: congenital neutropenia; deficiency; amyloidosis patient; g6pc3 deficiency ... See more keywords
Treatment of the Neutropenia Associated with GSD1b and G6PC3 Deficiency with SGLT2 Inhibitors
Sign Up to like & getrecommendations! Published in 2023 at "Diagnostics"
DOI: 10.3390/diagnostics13101803
Abstract: Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene. This transporter allows the glucose-6-phosphate that is made… read more here.
Keywords: gsd1b; g6pc3 deficiency; treatment; neutropenia associated ... See more keywords