نتایج جستجو برای: mitochondriopathy
تعداد نتایج: 62 فیلتر نتایج به سال:
An initial report on the therapeutic application of delta 9-THC (THC) (Dronabinol, Marinol) in 8 children resp. adolescents suffering from the following conditions, is given: neurodegenerative disease, mitochondriopathy, posthypoxic state, epilepsy, posttraumatic reaction. THC effected reduced spasticity, improved dystonia, increased initiative (with low dose), increased interest in the surroun...
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Across a variety of Mendelian disorders, ∼50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. Here, we demonstrate the power of transcriptome sequencing to molecularly d...
Case presentation: A 7 month-old was admitted for presenting a clinical condition suggestive of an Inborn Error metabolism, as she showed development delay, early onset refractory seizures and generalized dystonia associated with infectious events. After 3 years, remained unresponsive to treatment, over 15 tonic-clonic events per day, complementary exams were nonspecific, EEG left temporo-occip...
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