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Clinicopathologic Conference, Severe Methylenetetrahydrofolate Reductase Deficiency
NEJM 371:847-858, Case 27-2014, 2014
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agenesis of corpus callosum
apnea
bradycardia
brainstem,atrophy
cerebral venous thrombosis
children
Clinical Pathologic Conference(C.P.C.)
cortical blindness
cyanosis
developmental retardation
dural sinus thrombosis
gene mutation
head bobbing
hyperhomocysteinemia
hypomyelination
hypotonia
methylene tetrahydrofolate reductase
methylenetetrahydrofolate reductase deficiency
microcephaly
MRI,abnormal
optic nerve,hypoplasia of
pediatric neurology
pons,atrophy
respiratory failure
superior sagittal sinus thrombosis
vein of Galen
visual tracking
white matter disease
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