Movement disorders in mitochondrial disease
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Neurology"
DOI: 10.1007/s00415-017-8722-6
Abstract: Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus,… read more here.
Keywords: neurology; movement; disease; disorders mitochondrial ... See more keywords
Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.823687
Abstract: Background: Disorders of mitochondrial carnitine–acylcarnitine cycle is a heterogeneous group of hereditary diseases of mitochondrial β-oxidation of fatty acids tested in NBS program in Zhejiang province, China. Large-scale studies reporting disorders of mitochondrial carnitine–acylcarnitine cycle… read more here.
Keywords: mitochondrial carnitine; disorders mitochondrial; carnitine acylcarnitine; acylcarnitine cycle ... See more keywords