نتایج جستجو برای: kearns sayre
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Background: Kearns Sayre Syndrome (KSS) is a rare mitochondrial disorder with systemic involvement characterised by skeletal, smooth and cardiac muscle dysfunction; pigmentary retinal changes; neurological and endocrine dysfunction. KSS arise from a large-scale deletion of mitochondrial DNA which typically occurs as a sporadic event. Recurrent cardiac syncope is one way of the initial presentat...
BACKGROUND Kearns-Sayre syndrome (KSS) is a rare mitochondrial cytopathy, first described at Mayo Clinic in 1958. AIMS We aimed to define patient and disease characteristics in a large group of adult and pediatric patients with KSS. METHODS We retrospectively searched the Mayo Clinic medical index patient database for the records of patients with KSS between 1976 and 2009. The 35 patients i...
BACKGROUND Kearns-Sayre syndrome (KSS) is a mitochondrial DNA deletion syndrome that presents with profound cerebral folate deficiency and other features. Preliminary data support the notion that folinic acid therapy might be useful in the treatment of KSS patients. Our aim was to assess the clinical and neuroimaging outcomes of KSS patients receiving folinic acid therapy. METHODS PATIENTS...
DNA studies in patients with Kearns‑Sayre syndrome and chronic progressive external ophthalmoplegia. We appreciate the readers' interest and their comprehensive comments and advice about the article, [1] which mainly concerned details of the patients' information. In this paper, we reported 19 Kearns‑Sayre syndrome (KSS) patients whose diagnoses were in accordance with the current clinical diag...
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