200 related articles for article (PubMed ID: 25539952)
1. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome.
Quijada-Fraile P; O'Callaghan M; Martín-Hernández E; Montero R; Garcia-Cazorla À; de Aragón AM; Muchart J; Málaga I; Pardo R; García-Gonzalez P; Jou C; Montoya J; Emperador S; Ruiz-Pesini E; Arenas J; Martin MA; Ormazabal A; Pineda M; García-Silva MT; Artuch R
Orphanet J Rare Dis; 2014 Dec; 9():217. PubMed ID: 25539952
[TBL] [Abstract][Full Text] [Related]
2. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.
Pineda M; Ormazabal A; López-Gallardo E; Nascimento A; Solano A; Herrero MD; Vilaseca MA; Briones P; Ibáñez L; Montoya J; Artuch R
Ann Neurol; 2006 Feb; 59(2):394-8. PubMed ID: 16365882
[TBL] [Abstract][Full Text] [Related]
3. Cerebral folate deficiency.
Ramaekers VT; Blau N
Dev Med Child Neurol; 2004 Dec; 46(12):843-51. PubMed ID: 15581159
[TBL] [Abstract][Full Text] [Related]
4. Kearns-Sayre syndrome: Absence of clinical response to treatment with oral folinic acid.
Pardo Ruiz E; Maturana Martínez D; Vázquez López M; Ruiz Martín Y
Neurologia (Engl Ed); 2019; 34(9):618-620. PubMed ID: 28318733
[No Abstract] [Full Text] [Related]
5. Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate.
Allen RJ; DiMauro S; Coulter DL; Papadimitriou A; Rothenberg SP
Ann Neurol; 1983 Jun; 13(6):679-82. PubMed ID: 6881930
[TBL] [Abstract][Full Text] [Related]
6. Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
Serrano M; García-Silva MT; Martin-Hernandez E; O'Callaghan Mdel M; Quijada P; Martinez-Aragón A; Ormazábal A; Blázquez A; Martín MA; Briones P; López-Gallardo E; Ruiz-Pesini E; Montoya J; Artuch R; Pineda M
Mitochondrion; 2010 Aug; 10(5):429-32. PubMed ID: 20388557
[TBL] [Abstract][Full Text] [Related]
7. Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency.
Ramaekers VT; Weis J; Sequeira JM; Quadros EV; Blau N
Neuropediatrics; 2007 Aug; 38(4):184-7. PubMed ID: 18058625
[TBL] [Abstract][Full Text] [Related]
8. Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Pérez-Dueñas B; Ormazábal A; Toma C; Torrico B; Cormand B; Serrano M; Sierra C; De Grandis E; Marfa MP; García-Cazorla A; Campistol J; Pascual JM; Artuch R
Arch Neurol; 2011 May; 68(5):615-21. PubMed ID: 21555636
[TBL] [Abstract][Full Text] [Related]
9. Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.
Delmelle F; Thöny B; Clapuyt P; Blau N; Nassogne MC
Eur J Paediatr Neurol; 2016 Sep; 20(5):709-13. PubMed ID: 27328863
[TBL] [Abstract][Full Text] [Related]
10. Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.
Ormazabal A; Artuch R; Vilaseca MA; Aracil A; Pineda M
Neuropediatrics; 2005 Dec; 36(6):380-5. PubMed ID: 16429378
[TBL] [Abstract][Full Text] [Related]
11. Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.
Lubout CMA; Goorden SMI; van den Hurk K; Jaeger B; Jager NGL; van Koningsbruggen S; Chegary M; van Karnebeek CDM
Pediatr Neurol; 2020 Jan; 102():62-66. PubMed ID: 31371121
[TBL] [Abstract][Full Text] [Related]
12. Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition.
Masingue M; Benoist JF; Roze E; Moussa F; Sedel F; Lubetzki C; Nadjar Y
J Neurol Sci; 2019 Jan; 396():112-118. PubMed ID: 30448717
[TBL] [Abstract][Full Text] [Related]
13. Controlled trials of very high dose folic acid, vitamins B12 and B6, intravenous folinic acid and serine for treatment of hyperhomocysteinemia in ESRD.
Gonin JM; Nguyen H; Gonin R; Sarna A; Michels A; Masri-Imad F; Bommareddy G; Chassaing C; Wainer I; Loya A; Cary D; Barker LF; Assefi A; Greenspan R; Mahoney D; Wilcox CS
J Nephrol; 2003; 16(4):522-34. PubMed ID: 14696754
[TBL] [Abstract][Full Text] [Related]
14. Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study.
Hagebeuk EE; Duran M; Koelman JH; Abeling NG; Vyth A; Poll-The BT
J Child Neurol; 2012 Mar; 27(3):304-9. PubMed ID: 21868372
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.
Yu M; Zhang Z; Wang QQ; Liu J; Zuo YH; Yu L; Xiao JX; Zhang W; Yuan Y; Wang ZX
Chin Med J (Engl); 2016 Jun; 129(12):1419-24. PubMed ID: 27270536
[TBL] [Abstract][Full Text] [Related]
16. Cerebral folate deficiency: life-changing supplementation with folinic acid.
Hansen FJ; Blau N
Mol Genet Metab; 2005 Apr; 84(4):371-3. PubMed ID: 15781200
[TBL] [Abstract][Full Text] [Related]
17. The neurological evolution of Pearson syndrome: case report and literature review.
Lee HF; Lee HJ; Chi CS; Tsai CR; Chang TK; Wang CJ
Eur J Paediatr Neurol; 2007 Jul; 11(4):208-14. PubMed ID: 17434771
[TBL] [Abstract][Full Text] [Related]
18. Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases.
Akiyama T; Kuki I; Kim K; Yamamoto N; Yamada Y; Igarashi K; Ishihara T; Hatano Y; Kobayashi K
JIMD Rep; 2022 Nov; 63(6):529-535. PubMed ID: 36341171
[TBL] [Abstract][Full Text] [Related]
19. Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A; Perrier S; Radovic T; Gavrilovic S; Ostojic J; Tran LT; Thiffault I; Pastinen T; Schiffmann R; Bernard G
Orphanet J Rare Dis; 2023 Jul; 18(1):187. PubMed ID: 37443037
[TBL] [Abstract][Full Text] [Related]
20. Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients.
Tondo M; Málaga I; O'Callaghan M; Serrano M; Emperador S; Ormazabal A; Ruiz-Pesini E; Montoya J; Garcia-Silva MT; Martin-Hernandez E; Garcia-Cazorla A; Pineda M; Artuch R
Mitochondrion; 2011 Nov; 11(6):867-70. PubMed ID: 21745599
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]