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Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.
In infantile-onset cerebral folate deficiency, 5-methyltetrahydrofolate (5MTHF) levels in the cerebrospinal fluid are low, but folate levels in the serum and erythrocytes are normal. We examinedExpand
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Cerebral folate receptor autoantibodies in autism spectrum disorder
Cerebral folate deficiency (CFD) syndrome is a neurodevelopmental disorder typically caused by folate receptor autoantibodies (FRAs) that interfere with folate transport across the blood–brainExpand
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Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.
Reduced folate transport to the CNS was identified in two autism spectrum disorders, i.e., Rett syndrome and infantile low-functioning autism with neurological abnormalities. Twenty-five patientsExpand
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Autoantibodies against folate receptors in women with a pregnancy complicated by a neural-tube defect*
BACKGROUND In the absence of clinical folate deficiency, periconceptional supplementation with folic acid reduces a woman's risk of having an infant with a neural-tube defect. Since antiserum toExpand
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The protein and the gene encoding the receptor for the cellular uptake of transcobalamin-bound cobalamin.
The transcobalamin (TC, TCII) receptor (TCblR) on the plasma membrane binds TC- cobalamin (Cbl) and internalizes the complex by endocytosis. This receptor was purified from human placental membranesExpand
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Clinical recognition and aspects of the cerebral folate deficiency syndromes
Abstract We characterized cerebral folate deficiency (CFD) as any neuro-psychiatric condition associated with low spinal fluid (CSF) N5-methyltetrahydrofolate (MTHF) but normal folate status outsideExpand
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Cellular uptake of cobalamin: transcobalamin and the TCblR/CD320 receptor.
Cellular uptake of cobalamin is facilitated by a receptor-mediated endocytosis process involving transcobalamin, a plasma protein that binds cobalamin and a cell surface receptor that specificallyExpand
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MITOCHONDRIAL DISEASES ASSOCIATED WITH CEREBRAL FOLATE DEFICIENCY
Cerebral folate deficiency (CFD) has been defined as any neuropsychiatric condition associated with isolated lowering of 5-methyltetrahydrofolate (5-MTHF) levels in CSF and normal systemic folateExpand
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Cerebral folate deficiency and CNS inflammatory markers in Alpers disease.
We describe a 3.5-year-old female with Alpers disease with a POLG genotype of p.A467T/p.G848S and with a lethal outcome. Laboratory investigation revealed elevated CSF neopterin, IL-6, IL-8,Expand
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Autoantibodies against Folate Receptors in Women with a Pregnancy Complicated by a Neural-Tube Defect
Background In the absence of clinical folate deficiency, periconceptional supplementation with folic acid reduces a woman's risk of having an infant with a neural-tube defect. Since antiserum toExpand
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