Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency

Brain and Development

Volumn 37, Issue 1, 2015, Pages 168-170

  Munoz, Tatiana ^a   Patel, Jinesh ^a   Badilla Porras, Ramses ^a   Kronick, Jonathan ^a   Mercimek Mahmutoglu, Saadet ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Failure to thrive; Homocysteine; Hypotonia; Scoliosis; Severe methylenetetrahydrofolate reductase deficiency

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ACETYLSALICYLIC ACID; BETAINE; CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; PYRIDOXINE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; COBB ANGLE; DRUG DOSE INCREASE; ENZYME ACTIVITY; FAILURE TO THRIVE; FEMALE; FOLATE METABOLISM; HETEROZYGOTE; HUMAN; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; SCOLIOSIS; SPINE RADIOGRAPHY; COMPLICATION; DEFICIENCY; HOMOCYSTINURIA; PRESCHOOL CHILD; PSYCHOSIS; SPASTICITY;

CHILD, PRESCHOOL; FEMALE; HOMOCYSTINURIA; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUSCLE SPASTICITY; PSYCHOTIC DISORDERS; SCOLIOSIS;

EID: 84919413419     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2014.03.003     Document Type: Article

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