Concepedia

Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández, María del Mar O’Callaghan, Pilar Quijada, Ana Martı́nez de Aragón, Aída Ormazábal, Alberto Blázquez, Miguel Á. Martín, Paz Briones,

Mitochondrion · 2010 · 59 citations · 14 references

DOI

Concepts

References

14

Deletions of mitochondrial DNA in Kearns‐Sayre syndrome

Massimo Zeviani, Carlos T. Moraes, S. DiMauro et al. · Neurology · 1988 · 737 citations

, , +17

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

Agnès Rötig, Stéphane Blanche, Jean‐Paul Bonnefont et al. · Journal of Clinical Investigation · 1990 · 472 citations · Full text

, , +17

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

Howard A. Pearson, Jeffrey S. Lobel, Samuel A. Kocoshis et al. · The Journal of Pediatrics · 1979 · 448 citations

, , +13

Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome

Nils‐Göran Larsson, Elisabeth Holme, B. Kristiansson et al. · Pediatric Research · 1990 · 319 citations · Full text

, , +14

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

Merçè Pineda, Aída Ormazábal, Ester López‐Gallardo et al. · Annals of Neurology · 2005 · 158 citations

, , +17