http://chineseinput.net/에서 pinyin(병음)방식으로 중국어를 변환할 수 있습니다.
변환된 중국어를 복사하여 사용하시면 됩니다.
A New Allelic Variant in the PANK2 Gene in a Patient with Incomplete HARP Syndrome
Myriam Ley Martos,María Jesús Salado Reyes,Rosario Marín Iglesias,Carmen Gutiérrez Moro,Manuel Lubián Gutiérrez,Lorena Estepa Pedregosa 대한파킨슨병및이상운동질환학회 2020 Journal Of Movement Disorders Vol.13 No.3
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disease characterized by iron deposition in the basal ganglia, primarily in the globus pallidus and substantia nigra. Common clinical manifestations include dystonia, parkinsonism, spasticity, neuropsychiatric disorders and retinal degeneration. PKAN is included in the spectrum of disorders related to neurodegeneration with brain iron accumulation (NBIA), which includes eleven diseases.