5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant

Brain and Development

Volumn 33, Issue 6, 2011, Pages 521-524

  Tsuji, Megumi ^a   Takagi, Atsushi ^a   Sameshima, Kiyoko ^a   Iai, Mizue ^a   Yamashita, Sumimasa ^a   Shinbo, Hiroko ^a   Furuya, Noritaka ^a   Kurosawa, Kenji ^a   Osaka, Hitoshi ^a  

^a KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

Autosomal recessive inheritance; Developmental delay; Hyperhomocysteinemia; Methylenetetrahydrofolate reductase deficiency; MTHFR; Polyneuropathy

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); CARBAMAZEPINE; GLYCINE; HOMOCYSTEINE; METHIONINE; VALINE;

ADULT RESPIRATORY DISTRESS SYNDROME; ARTICLE; ARTIFICIAL VENTILATION; BRAIN STEM RESPONSE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; COMMUNICATING HYDROCEPHALUS; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; EXON; FAILURE TO THRIVE; FEMALE; FIBROBLAST CULTURE; GENE CONVERSION; GENERALIZED EDEMA; HUMAN; HYPOTHERMIA; INFANT; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MISSENSE MUTATION; MORTALITY; MUSCLE HYPERTONIA; MUTATIONAL ANALYSIS; NERVE PARALYSIS; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHRENIC NERVE; POLYNEUROPATHY; TONIC SEIZURE; UNCONSCIOUSNESS; URINE RETENTION;

AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BRAIN; HOMOCYSTINURIA; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MOLECULAR SEQUENCE DATA; MUSCLE SPASTICITY; MUTATION, MISSENSE; POLYNEUROPATHIES; PSYCHOTIC DISORDERS; SEQUENCE ALIGNMENT; TETRAHYDROFOLATES;

EID: 79955906406     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.08.013     Document Type: Article

References (10)

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