scholarly journals Cerebral folate deficiency: Analytical tests and differential diagnosis

2019 ◽  
Author(s):  
Simon Pope ◽  
Rafael Artuch ◽  
Simon Heales ◽  
Shamima Rahman
Keyword(s):  
Differential Diagnosis ◽  
Folate Deficiency ◽  
Cerebral Folate Deficiency

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

2005 ◽  
Vol 352 (19) ◽  
pp. 1985-1991 ◽  
Author(s):  
Vincent T. Ramaekers ◽  
Sheldon P. Rothenberg ◽  
Jeffrey M. Sequeira ◽  
Thomas Opladen ◽  
Nenad Blau ◽  
...  
Keyword(s):  
Folate Deficiency ◽  
Deficiency Syndrome ◽  
Folate Receptors ◽  
Cerebral Folate Deficiency

Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

2011 ◽  
Vol 44 (8-9) ◽  
pp. 719-721 ◽  
Author(s):  
Aida Ormazábal ◽  
Belén Perez-Dueñas ◽  
Cristina Sierra ◽  
Roser Urreitzi ◽  
Julio Montoya ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Differential Diagnosis ◽  
Folate Deficiency

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

2018 ◽  
Vol 108 (3) ◽  
pp. 564-565
Author(s):  
Gerarda Cappuccio ◽  
Annalaura Torella ◽  
Mario Mastrangelo ◽  
Claudia Carducci ◽  
Vincenzo Nigro ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Folate Deficiency ◽  
Cerebral Folate Deficiency

scholarly journals Cerebral folate deficiency--mishaps and misdirection

Brain ◽  
2012 ◽  
Vol 135 (7) ◽  
pp. 2002-2003 ◽  
Author(s):  
R. McFarland
Keyword(s):  
Folate Deficiency ◽  
Cerebral Folate Deficiency

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome

2018 ◽  
Vol 124 (1) ◽  
pp. 87-93 ◽  
Author(s):  
V.Th. Ramaekers ◽  
K. Segers ◽  
J.M. Sequeira ◽  
M. Koenig ◽  
L. Van Maldergem ◽  
...  
Keyword(s):  
Folate Receptor ◽  
Folate Deficiency ◽  
Genetic Assessment ◽  
Cerebral Folate Deficiency
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