Therapeutic Benefit of Blood Transfusion in a Patient with Novel PGK1 Mutation (c.461T>C [p.L154P])

Keyphrases

• Therapeutic Benefits 100%
• Blood Transfusion 100%
• Phosphoglycerate Kinase 1 (PGK1) 100%
• Pyruvate Kinase Deficiency 100%
• Neurological Symptoms 66%
• Anemia 33%
• Young Males 33%
• Disease Progression 33%
• Clinical Disease 33%
• Associated Complications 33%
• Subjective Improvement 33%
• Adenosine Triphosphate 33%
• Recommended Treatment 33%
• Advanced Disease 33%
• Hemolytic Anemia 33%
• Myopathy 33%
• Glycolytic Enzymes 33%
• Phosphoglycerate Kinase 33%
• Physical Condition 33%
• Non-hereditary 33%

Medicine and Dentistry

• Blood Transfusion 100%
• Phosphoglycerate Kinase 100%
• Neurologic Disease 50%
• Disease 25%
• Disease Exacerbation 25%
• Anemia 25%
• Adenosine Triphosphate 25%
• Myopathy 25%
• Hemolytic Anemia 25%
• Glycolytic Enzyme 25%

Biochemistry, Genetics and Molecular Biology

• Blood Transfusion 100%
• PGK1 100%
• Phosphoglycerate Kinase 100%
• Enzyme 50%
• Adenosine Triphosphate 25%