-
1
-
-
69449106758
-
Folate receptor alpha defect causes cerebral folate transport deficiency: A treatable neurodegenerative disorder associated with disturbed myelin metabolism
-
Steinfeld R, Grapp M, Kraetzner R, et al. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 2009;85:354-363.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 354-363
-
-
Steinfeld, R.1
Grapp, M.2
Kraetzner, R.3
-
2
-
-
0036990821
-
Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: A novel neurometabolic condition responding to folinic acid substitution
-
Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N. Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics 2002; 33:301-308.
-
(2002)
Neuropediatrics
, vol.33
, pp. 301-308
-
-
Ramaekers, V.T.1
Häusler, M.2
Opladen, T.3
Heimann, G.4
Blau, N.5
-
3
-
-
84863193433
-
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
-
Grapp M, Just IA, Linnankivi T, et al. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain 2012;135:2022-2031.
-
(2012)
Brain
, vol.135
, pp. 2022-2031
-
-
Grapp, M.1
Just, I.A.2
Linnankivi, T.3
-
4
-
-
84888057205
-
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
-
Ohba C, Osaka H, Iai M, et al. Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 2013;14: 225-232.
-
(2013)
Neurogenetics
, vol.14
, pp. 225-232
-
-
Ohba, C.1
Osaka, H.2
Iai, M.3
-
5
-
-
84907675617
-
Diagnosis and management of cerebral folate deficiency A form of folinic acid-responsive seizures
-
Al-Baradie RS, Chaudhary MW. Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. Neurosciences (Riyadh) 2014;19:312316.
-
(2014)
Neurosciences (Riyadh)
, vol.19
, pp. 312316
-
-
Al-Baradie, R.S.1
Chaudhary, M.W.2
-
6
-
-
15244357245
-
Cerebral folate deficiency: Life-changing supplementation with folinic acid
-
Hansen FJ, Blau N. Cerebral folate deficiency: life-changing supplementation with folinic acid. Mol Genet Metab 2005; 84:371-373.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 371-373
-
-
Hansen, F.J.1
Blau, N.2
-
7
-
-
84897575359
-
The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource
-
van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S. The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource. Mol Genet Metab 2014;111:428-438.
-
(2014)
Mol Genet Metab
, vol.111
, pp. 428-438
-
-
Van Karnebeek, C.D.1
Shevell, M.2
Zschocke, J.3
Moeschler, J.B.4
Stockler, S.5
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