Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman. [electronic resource]
Producer: 20080731Description: 963-4 p. digitalISSN:- 1468-330X
- Brain -- pathology
- Brain Diseases, Metabolic, Inborn -- diagnosis
- Catatonia -- diagnosis
- Chromosome Aberrations
- Chromosomes, Human, Pair 1 -- genetics
- Coma -- genetics
- Dementia -- genetics
- Exons -- genetics
- Folic Acid -- blood
- Genes, Recessive -- genetics
- Homocysteine -- blood
- Humans
- Magnetic Resonance Imaging
- Methionine -- blood
- Methylenetetrahydrofolate Reductase (NADPH2) -- deficiency
- Mutation, Missense
- Neurologic Examination
- Paraplegia -- diagnosis
- Polymorphism, Genetic -- genetics
- Psychotic Disorders -- diagnosis
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Publication Type: Case Reports; Letter
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