Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: A case report of nonclassical homocystinuria

Journal of Child Neurology

Volumn 23, Issue 7, 2008, Pages 823-828

  Bishop, Lisa ^a   Kanoff, Richard ^a   Charnas, Lawrence ^a,b   Krenzel, Charles ^b   Berry, Susan A ^a,b   Schimmenti, Lisa A ^a,b  

^a UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

Author keywords

Homocystinuria; Methylenetetrahydrofolate reductase; Newborn metabolic screen

Indexed keywords

ACETYLSALICYLIC ACID; ALPHA TOCOPHEROL; BETAINE; CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MULTIVITAMIN; PYRIDOXINE; RIBOFLAVIN;

AGITATION; APATHY; ARTICLE; ATAXIA; ATTENTION DISTURBANCE; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; CLONUS; CONFUSION; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DISEASE SEVERITY; DISORIENTATION; DYSARTHRIA; DYSMETRIA; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; FAMILY HISTORY; FEMALE; HOMOCYSTINURIA; HUMAN; HYPERREFLEXIA; LIMB WEAKNESS; MENTAL INSTABILITY; NEUROLOGIC DISEASE; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SACCADIC EYE MOVEMENT; SCHOOL CHILD; SLOW BRAIN WAVE; SPASTICITY; SPEECH DISORDER; TREMOR; VITAMIN BLOOD LEVEL; WEIGHT REDUCTION; WHITE MATTER;

CHILD; DEVELOPMENTAL DISABILITIES; FEMALE; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; METHIONINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); SEVERITY OF ILLNESS INDEX; VITAMIN B 12;

EID: 47349095404     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808315410     Document Type: Article

References (21)

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