Management of ultrarare inherited arrhythmia syndromes
Ultrarare inherited arrhythmia syndromes are increasingly diagnosed due to increased
awareness as well as increased availability and reduced cost of genetic testing. Yet by …
awareness as well as increased availability and reduced cost of genetic testing. Yet by …
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey
J Neugebauer, K Reinson, M Bellusci… - Journal of Inherited …, 2025 - Wiley Online Library
Primary mitochondrial diseases (PMD) account for a group of approximately 400 different
genetic disorders with diverse clinical presentations and pathomechanisms. Although each …
genetic disorders with diverse clinical presentations and pathomechanisms. Although each …
Vitamin B5 Monotherapy Improves Symptoms in a 7‐Year‐Old Girl With TANGO2 Deficiency Disorder
H Li, Z Xu, J Guo, P Zhang, X Dong… - American Journal of …, 2024 - Wiley Online Library
ABSTRACT TANGO2 deficiency disorder is often underdiagnosed and lacks an optimal
treatment strategy. A 7‐year‐old Chinese girl presented with epilepsy, developmental delay …
treatment strategy. A 7‐year‐old Chinese girl presented with epilepsy, developmental delay …