Latest Advances

  • Condition: Glycogen Storage Disease Type Ib (GSD Ib)
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Empagliflozin
  • Number of Patients: 1
  • Published —
This case report describes a patient with GSD Ib that was treated using empagliflozin.
  • Condition: PRKAG2 Syndrome Progressive Cardiomyopathy
  • Journal: Journal of the American College of Cardiology
  • Treatment Used: Pacemaker Implantation, Heart Transplantation
  • Number of Patients: 90
  • Published —
This study described the phenotype and natural history of PRKAG2 variants (progressive cardiomyopathy) in European patients.
  • Condition: Late Onset Pompe Disease
  • Journal: Ideggyogyaszati szemle
  • Treatment Used: Enzyme Replacement Therapy
  • Number of Patients: 13
  • Published —
This study tested the safety and efficacy of using enzyme replacement therapy to treat patients with late onset Pompe disease.
  • Condition: Breast Cancer
  • Journal: Journal of the National Comprehensive Cancer Network : JNCCN
  • Treatment Used: Immune Checkpoint Inhibitors
  • Number of Patients: 14867
  • Published —
This study tested the safety and efficacy of using immune checkpoint inhibitors to treat patients with breast cancer.
  • Condition: Pompe Disease
  • Journal: Journal of pediatric rehabilitation medicine
  • Treatment Used: Respiratory Muscle Training (RMT) Regimens
  • Number of Patients: 10
  • Published —
This article described the effects of two 12-week respiratory muscle training (RMT) regimen in patients with Pompe disease (disorder caused by the buildup of a complex sugar called glycogen in the body's cells).
  • Condition: Infantile-Onset Pompe Disease
  • Journal: Cardiology in the young
  • Treatment Used: Enzyme Replacement Therapy
  • Number of Patients: 2
  • Published —
This study describes the outcomes of two cases of patients with infantile-onset Pompe disease.
  • Condition: Cervical Tumors
  • Journal: Journal of gynecologic oncology
  • Treatment Used: Abdominal Trachelectomy
  • Number of Patients: 212
  • Published —
This study tested the safety and efficacy of using an abdominal trachelectomy to treat patients with cervical tumors that are larger than 2 cm.
  • Condition: Pompe Disease
  • Journal: Neuromuscular disorders : NMD
  • Treatment Used: Enzyme Replacement Therapy
  • Number of Patients: 125
  • Published —
This study investigated the rates of discontinuation in patients undergoing enzyme replacement therapy for their Pompe disease.
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