Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sa...
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
About this item
Full title
Author / Creator
Quijada-Fraile, Pilar , O’Callaghan, Mar , Martín-Hernández, Elena , Montero, Raquel , Garcia-Cazorla, Àngels , de Aragón, Ana Martínez , Muchart, Jordi , Málaga, Ignacio , Pardo, Rafael , García-Gonzalez, Pedro , Jou, Cristina , Montoya, Julio , Emperador, Sonia , Ruiz-Pesini, Eduardo , Arenas, Joaquín , Martin, Miguel Angel , Ormazabal, Aida , Pineda, Mercè , García-Silva, María T and Artuch, Rafael
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
Authors, Artists and Contributors
Author / Creator
O’Callaghan, Mar
Martín-Hernández, Elena
Montero, Raquel
Garcia-Cazorla, Àngels
de Aragón, Ana Martínez
Muchart, Jordi
Málaga, Ignacio
Pardo, Rafael
García-Gonzalez, Pedro
Jou, Cristina
Montoya, Julio
Emperador, Sonia
Ruiz-Pesini, Eduardo
Arenas, Joaquín
Martin, Miguel Angel
Ormazabal, Aida
Pineda, Mercè
García-Silva, María T
Artuch, Rafael
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4302586
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4302586
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-014-0217-2
