Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2254-2257

  Crushell, Ellen ^a   O'Leary, Daire ^a   Irvine, Alan D ^b   O'Shea, Anne ^a   Mayne, Philip D ^a   Reardon, William ^b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

Author keywords

Eczema; Infantile rash; MTHFR deficiency; Neonatal seizures

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ANTINUCLEAR ANTIBODY; BETAINE; DERMATOLOGICAL AGENT; EMOLIENT; FOLINIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; PHENOBARBITAL; PYRIDOXINE; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONVERGENT STRABISMUS; DEMYELINATION; DETERIORATION; DEVELOPMENTAL DISORDER; DRUG WITHDRAWAL; ECZEMA; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; ERYTHEMA; FEEDING DISORDER; FEMALE; GRAND MAL SEIZURE; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; LABORATORY TEST; LETHARGY; METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY; MICROCEPHALY; MORNING STIFFNESS; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEWBORN PERIOD; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAKERATOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RASH; SKIN BIOPSY; TREATMENT DURATION; TREATMENT RESPONSE; TREMOR; VISUAL DISORDER;

CHILD, PRESCHOOL; EXANTHEMA; FEMALE; HUMANS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2);

EID: 84865564498     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35479     Document Type: Article

References (7)

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