Assuming cerebral is required, and folate is required, and deficiency is required, the following 6 results were found.
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Metabolic derangements and Autismhttps://cnke.org/articles/126
is easier for the body to absorb and can cross the blood-brain barrier (Li et al., 2018). Neurologic Symptoms and Cerebral Folate Deficiency: High-dose folinic acid improves neurologic symptoms in cerebral folate deficiency, characterized by...
- Type: Article
- Author: Editor CNKE
- Category: Home
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Neurometabolic Disordershttps://cnke.org/articles/knowledge-maps/209
(vitamin B12) metabolism: Cobalamin C (CblC) defect Methylmalonic acidemia with homocystinuria Folate metabolism: Cerebral folate deficiency Methylenetetrahydrofolate reductase (MTHFR) deficiency Vitamin D-dependent rickets (types I and II) Disorders of...
- Type: Article
- Author: Editor CNKE
- Category: Articles (open)
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Investigations in Epileptic Encephalopathieshttps://cnke.org/articles/321
Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor dependency Pyridoxine dependent epilepsy Folinic acid responsive epilepsy Pyridoxal-5′-phosphate responsive epilepsy...
- Type: Article
- Author: Editor
- Category: Home
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Vitamin responsive neurological conditionshttps://cnke.org/articles/201
with biotin supplementation. Holocarboxylase synthetase deficiency: Responsive to biotin. Vitamin B9 (Folate) Cerebral folate deficiency (CFD): Neurological symptoms include developmental regression, irritability, ataxia, and seizures. Treated with...
- Type: Article
- Author: Editor CNKE
- Category: Articles
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5,10-methenyltetrahydrofolate synthetase deficiencyhttps://cnke.org/articles/261
Signs & Symptoms Early Signs: Developmental delay Global failure to thrive Microcephaly Progression: Rigidity and spasticity Seizures and epilepsy (various types) Cerebral hypomyelination (visible on MRI) Variability: Severity of disabilities varies...
- Type: Article
- Author: Editor
- Category: Home
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Investigations in Rare Treatable Disordershttps://cnke.org/articles/289
trial, CSF pterins, and monoamine neurotransmitters. Treatment: Levodopa/carbidopa. 9. Folate Deficiency (Cerebral Folate Deficiency) Presentation: Developmental delays, autism spectrum features. Key Investigations: CSF 5-MTHF low; serum folate normal....
- Type: Article
- Author: Editor
- Category: Home