Identification of a novel deletion mutation in PHKA2 in a taiwanese patient with type IXa glycogen storage disease

Παρόμοια τεκμήρια

• A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
  από: Junling Fu, κ.ά.
  Έκδοση: (2019-03-01)
• Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2
  από: J. Andres Morales, κ.ά.
  Έκδοση: (2021-06-01)
• Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center
  από: Kun Huang, κ.ά.
  Έκδοση: (2022-08-01)
• A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia
  από: Yasuhiko Ago, κ.ά.
  Έκδοση: (2019-07-01)
• Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases
  από: Rui Dong, κ.ά.
  Έκδοση: (2022-08-01)