A case involving a patient with a novel homozygous #POLG mutation, an important differential diagnosis for thymidine kinase 2 deficiency (#TK2d). Published in Acta Neurologica Belgica.
Read more: https://bit.ly/47V8qkp
#RareDisease #ThymidineKinase2Deficiency #MedSky #Neurology
Read more: https://bit.ly/47V8qkp
#RareDisease #ThymidineKinase2Deficiency #MedSky #Neurology
Case Report: Novel Homozygous POLG Mutation
A case report describes a novel homozygous POLG mutation, an important differential diagnosis for thymidine kinase 2 deficiency (TK2d).
bit.ly
November 11, 2025 at 4:53 PM
A case involving a patient with a novel homozygous #POLG mutation, an important differential diagnosis for thymidine kinase 2 deficiency (#TK2d). Published in Acta Neurologica Belgica.
Read more: https://bit.ly/47V8qkp
#RareDisease #ThymidineKinase2Deficiency #MedSky #Neurology
Read more: https://bit.ly/47V8qkp
#RareDisease #ThymidineKinase2Deficiency #MedSky #Neurology
#rarediseases #MHRA #UK #PIMdesignation #UCB #DoxTM #TK2d #ThymidineKinase2Deficiency #TK2Deficiency #patientaccess #TK2geneticmutation #mitochondrialDNAdepletion #EarlyAccesstoMedicines #EAMS #MitochondrialMedicine #Mitochondrialdiseases
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MHRA grants Promising Innovative Medicine designation to UCB’s DoxTM for TK2d - PharmaTimes
UCB’s developmental treatment may be eligible for patient access
pharmatimes.com
May 12, 2025 at 9:46 AM
Patients in the #EU with rare disease #thymidinekinase2deficiency (TK2d) have their first approved therapy, #UCB's #Kygevi, after the #EuropeanCommission cleared the drug "under exceptional circumstances."
pharmaphorum.com/news/ucb-bri...
pharmaphorum.com/news/ucb-bri...
March 31, 2026 at 11:57 AM
Patients in the #EU with rare disease #thymidinekinase2deficiency (TK2d) have their first approved therapy, #UCB's #Kygevi, after the #EuropeanCommission cleared the drug "under exceptional circumstances."
pharmaphorum.com/news/ucb-bri...
pharmaphorum.com/news/ucb-bri...