نتایج جستجو برای: sayre

تعداد نتایج: 631  

Journal: :International Journal of Clinical Cardiology 2020

Journal: :Neuropediatrics 2007
V T Ramaekers J Weis J M Sequeira E V Quadros N Blau

Folate transport to the brain depends on ATP-driven folate receptor-mediated transport across choroid plexus epithelial cells. Failure of ATP production in Kearns-Sayre syndrome syndrome provides one explanation for the finding of low spinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) levels in this condition. Therefore, we suspect the presence of reduced folate transport across the blood-spin...

Journal: :Archives of neurology 2012
Nichola Z Lax Graham R Campbell Amy K Reeve Nobuhiko Ohno Jessica Zambonin Emma L Blakely Robert W Taylor Eduardo Bonilla Kurenai Tanji Salvatore DiMauro Evelyn Jaros Hans Lassmann Doug M Turnbull Don J Mahad

OBJECTIVE To explore myelin components and mitochondrial changes within the central nervous system in patients with well-characterized mitochondrial disorders due to nuclear DNA or mitochondrial DNA (mtDNA) mutations. DESIGN Immunohistochemical analysis, histochemical analysis, mtDNA sequencing, and real-time and long-range polymerase chain reaction were used to determine the pathogenicity of...

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