Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation

(2016) Françoise Delmelle et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical recognition and aspects of the cerebral folate deficiency syndromes

(2013) Vincent Ramaekers et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency

(2012) M. Grapp et al.   BRAIN

Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

(2012) Mercedes Serrano et al.   DRUG DISCOVERY TODAY

Cerebral Folate Deficiency Syndromes in Childhood

(2011) Belén Pérez-Dueñas et al.   ARCHIVES OF NEUROLOGY

Cerebral folate deficiency: A neurometabolic syndrome?

(2011) Sarah Mangold et al.   MOLECULAR GENETICS AND METABOLISM

Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

(2011) Patricia Dill et al.   MOLECULAR GENETICS AND METABOLISM

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

(2010) Belén Pérez-Dueñas et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Folate Receptor Alpha Defect Causes Cerebral Folate Transport Deficiency: A Treatable Neurodegenerative Disorder Associated with Disturbed Myelin Metabolism

(2009) Robert Steinfeld et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CONGENITAL NULL MUTATIONS OF THE FOLR1 GENE: A PROGRESSIVE NEUROLOGIC DISEASE AND ITS TREATMENT

(2009) H. Cario et al.   NEUROLOGY