Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.
Michot
J M
JM
Sedel
F
F
Giraudier
S
S
Smiejan
J M
JM
Papo
T
T
D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002389:Catatonia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003128:Coma / Q000235:genetics*; D003704:Dementia / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005492:Folic Acid / Q000097:blood; D005808:Genes, Recessive / Q000235:genetics; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008279:Magnetic Resonance Imaging; D008715:Methionine / Q000097:blood; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency* / Q000235:genetics*; D020125:Mutation, Missense; D009460:Neurologic Examination; D010264:Paraplegia / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D011618:Psychotic Disorders / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*
D006710:Homocysteine; D005492:Folic Acid; D008715:Methionine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)