The clinical picture of early-onset cobalamin c defect (methylmalonic aciduria and homocystinuria)

Paediatrics and Child Health

Volumn 18, Issue SUPPL. 1, 2008, Pages

  Deodato, Frederica ^a   Boenzi, Sara ^a   Rizzo, Cristiano ^a   Dionisi Vici, Carlo ^a  

^a NONE

Author keywords

cobalamin C defect; homocystinuria; hydrocephalus; methionine; methylmalonic aciduria

Indexed keywords

ANTICONVULSIVE AGENT; BETAINE; CARNITINE; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHIONINE; METHYLMALONIC ACID;

ABNORMAL BEHAVIOR; ADOLESCENT; ARTICLE; ATROPHIC GASTRITIS; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COBALAMIN C DEFECT; COMA; COMMUNICATING HYDROCEPHALUS; EARLY DIAGNOSIS; EPILEPSY; FEEDING DISORDER; FEMALE; FOLLOW UP; GENE MUTATION; HEMATOLOGIC DISEASE; HEMOLYTIC UREMIC SYNDROME; HOMOCYSTINURIA; HUMAN; INFANT; LETHARGY; MALE; MENTAL DEFICIENCY; METHYLMALONIC ACIDURIA; MICROCEPHALY; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PHENOTYPE; SEIZURE; TREATMENT OUTCOME; VISUAL IMPAIRMENT;

EID: 55049140937     PISSN: 17517222     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1751-7222(08)70019-2     Document Type: Article

References (10)

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