183 related articles for article (PubMed ID: 37443037)
1. 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]
2. Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency.
Kobayashi Y; Tohyama J; Akiyama T; Magara S; Kawashima H; Akasaka N; Nakashima M; Saitsu H; Matsumoto N
Brain Dev; 2017 Mar; 39(3):266-270. PubMed ID: 27743887
[TBL] [Abstract][Full Text] [Related]
3. Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the FOLR1 gene.
Brunetti S; Malerba L; Giordano L; Parrini E; Guerrini R; Palumbo G; Parazzini C; Bestetti I; Accorsi P
Am J Med Genet A; 2021 Aug; 185(8):2526-2531. PubMed ID: 34008900
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures.
Al-Baradie RS; Chaudhary MW
Neurosciences (Riyadh); 2014 Oct; 19(4):312-6. PubMed ID: 25274592
[TBL] [Abstract][Full Text] [Related]
6. Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S; Simsek E; Yilmaz S; Durmaz A; Serin HM; Gokben S
Acta Neurol Belg; 2023 Feb; 123(1):121-127. PubMed ID: 34002331
[TBL] [Abstract][Full Text] [Related]
7. First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
Zhang C; Deng X; Wen Y; He F; Yin F; Peng J
BMC Med Genet; 2020 Nov; 21(1):235. PubMed ID: 33243190
[TBL] [Abstract][Full Text] [Related]
8. Cerebral folate deficiency: a treatable cause of late deterioration in epilepsy with developmental delay.
Chowdhury FA; Sokolov E; Anderson J; Josifova DJ; Nashef L
Pract Neurol; 2024 Jan; 24(1):56-59. PubMed ID: 38135499
[TBL] [Abstract][Full Text] [Related]
9. Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.
Ramaekers VT; Segers K; Sequeira JM; Koenig M; Van Maldergem L; Bours V; Kornak U; Quadros EV
Mol Genet Metab; 2018 May; 124(1):87-93. PubMed ID: 29661558
[TBL] [Abstract][Full Text] [Related]
10. Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S; Artuch R; Heales S; Rahman S
J Inherit Metab Dis; 2019 Jul; 42(4):655-672. PubMed ID: 30916789
[TBL] [Abstract][Full Text] [Related]
11. Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency--Two Children from Southern India.
Gowda VK; Natarajan B; Srinivasan VM; Shivappa SK
J Pediatr Neurosci; 2021; 16(4):273-276. PubMed ID: 36531775
[TBL] [Abstract][Full Text] [Related]
12. Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease.
Mafi S; Laroche-Raynaud C; Chazelas P; Lia AS; Derouault P; Sturtz F; Baaj Y; Froget R; Rio M; Benoist JF; Poumeaud F; Favreau F; Faye PA
Brain Sci; 2020 Oct; 10(11):. PubMed ID: 33105619
[TBL] [Abstract][Full Text] [Related]
13. Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of
Papadopoulou MT; Dalpa E; Portokalas M; Katsanika I; Tirothoulaki K; Spilioti M; Gerou S; Plecko B; Evangeliou AE
JIMD Rep; 2021 Jul; 60(1):3-9. PubMed ID: 34258135
[TBL] [Abstract][Full Text] [Related]
14.
Cao X; Wolf A; Kim SE; Cabrera RM; Wlodarczyk BJ; Zhu H; Parker M; Lin Y; Steele JW; Han X; Ramaekers VT; Steinfeld R; Finnell RH; Lei Y
J Med Genet; 2021 Jul; 58(7):484-494. PubMed ID: 32820034
[No Abstract] [Full Text] [Related]
15. Cerebral folate deficiency: A report of two affected siblings.
Almahmoud R; Mekki M; El-Hattab AW
Mol Genet Metab Rep; 2023 Jun; 35():100975. PubMed ID: 37101857
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies.
Ramaekers VT; Quadros EV
Nutrients; 2022 Jul; 14(15):. PubMed ID: 35956272
[TBL] [Abstract][Full Text] [Related]
18. Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblings.
Ferreira P; Luco SM; Sawyer SL; Davila J; Boycott KM; Dyment DA
Neurol Genet; 2016 Feb; 2(1):e38. PubMed ID: 27066576
[TBL] [Abstract][Full Text] [Related]
19. Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Dill P; Schneider J; Weber P; Trachsel D; Tekin M; Jakobs C; Thöny B; Blau N
Mol Genet Metab; 2011 Nov; 104(3):362-8. PubMed ID: 21752681
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
