Kearns-sayre Syndrome
What's New
Last Posted: Mar 06, 2023
- Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
Batllori Marta, et al. Journal of inherited metabolic disease 2018 0 (6) 1147-1158 - The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Anteneová Nicole, et al. Brain sciences 2020 0 (11) - Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases.
Akiyama Tomoyuki, et al. JIMD reports 2022 0 (6) 529-535 - Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova Marketa, et al. Pediatric blood & cancer 2018 0 (4) e27591 - A case of Kearns-Sayre syndrome with the 4,977-bp common deletion associated with a novel 7,704-bp deletion.
Vázquez-Acevedo M, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2003 0 (5) 247-50 - The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar - Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.
Yu Meng, et al. Chinese medical journal 0 0 (12) 1419-1424 - Kearns-Sayre syndrome
From NCATS Genetic and Rare Diseases Information Center - Clinical features of A3243G mitochondrial tRNA mutation.
Chae Jong Hee, et al. Brain & development 2004 10 (7) 459-62 - Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.
Marotta R, et al. Internal medicine journal 0 0 (1-2) 10-9
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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