AP1S2 -truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency

2018 ◽  
Vol 108 (3) ◽  
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Annalaura Torella ◽  
Mario Mastrangelo ◽  
Claudia Carducci ◽  
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Keyword(s):  
Neurodevelopmental Disorder ◽  
Folate Deficiency ◽  
Cerebral Folate Deficiency

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

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pp. 1985-1991 ◽  
Author(s):  
Vincent T. Ramaekers ◽  
Sheldon P. Rothenberg ◽  
Jeffrey M. Sequeira ◽  
Thomas Opladen ◽  
Nenad Blau ◽  
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Keyword(s):  
Folate Deficiency ◽  
Deficiency Syndrome ◽  
Folate Receptors ◽  
Cerebral Folate Deficiency

scholarly journals Cerebral folate deficiency--mishaps and misdirection

Brain ◽  
2012 ◽  
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pp. 2002-2003 ◽  
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R. McFarland
Keyword(s):  
Folate Deficiency ◽  
Cerebral Folate Deficiency

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Vol 124 (1) ◽  
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V.Th. Ramaekers ◽  
K. Segers ◽  
J.M. Sequeira ◽  
M. Koenig ◽  
L. Van Maldergem ◽  
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Folate Receptor ◽  
Folate Deficiency ◽  
Genetic Assessment ◽  
Cerebral Folate Deficiency

Clinical, etiological and therapeutic aspects of cerebral folate deficiency

2015 ◽  
Vol 15 (7) ◽  
pp. 793-802 ◽  
Author(s):  
Marta Molero-Luis ◽  
Mercedes Serrano ◽  
Maria M O’Callaghan ◽  
Cristina Sierra ◽  
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Cerebral Folate Deficiency

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Neurology ◽  
2008 ◽  
Vol 70 (16) ◽  
pp. 1360-1362 ◽  
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E. V. Quadros ◽  
A. Nascimento ◽  
M. T. Garcia-Silva ◽  
P. Briones ◽  
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Keyword(s):  
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Folate Deficiency ◽  
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