MPI-CDG with transient hypoglycosylation and antithrombin deficiency

Eitemau Tebyg

• Transient desialylation in combination with a novel antithrombin deficiency causing a severe and recurrent thrombosis despite anticoagulation therapy
  gan: Revilla, Nuria, et al.
  Cyhoeddwyd: (2017)
• The Infective Polymerization of Conformationally Unstable Antithrombin Mutants May Play a Role in the Clinical Severity of Antithrombin Deficiency
  gan: Martínez-Martínez, Irene, et al.
  Cyhoeddwyd: (2012)
• Incidence and features of thrombosis in children with inherited antithrombin deficiency
  gan: de la Morena-Barrio, Belén, et al.
  Cyhoeddwyd: (2019)
• Defects of splicing in antithrombin deficiency
  gan: de la Morena‐Barrio, María E., et al.
  Cyhoeddwyd: (2017)
• ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
  gan: María Eugenia de laMorena‐Barrio, et al.
  Cyhoeddwyd: (2020-08-01)