Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 528-538

  Rosenblatt, D S ^a,d   Aspler, A L ^a   Shevell, M I ^a   Pletcher, B A ^b   Fenton, W A ^c   Seashore, M R ^c  

^a MCGILL UNIVERSITY   (Canada)

^b RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d ROYAL VICTORIA HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; BIOCHEMICAL MARKER; CARNITINE; COBAMAMIDE; FOLIC ACID; FOLINIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; MECOBALAMIN; METHIONINE SYNTHASE; METHYLMALONIC ACID; METHYLMALONYL COENZYME A MUTASE;

ADOLESCENT; ADULT; ARTICLE; BLOOD DISEASE; CHILD; CLINICAL ARTICLE; DELIRIUM; DEMENTIA; ENZYME DEFICIENCY; ERYTHROCYTE; EXTRAPYRAMIDAL SYMPTOM; EYE DISEASE; FEEDING DISORDER; FEMALE; FOLLOW UP; GENETIC COMPLEMENTATION; GENETIC HETEROGENEITY; GROWTH RETARDATION; HOMOCYSTINURIA; HUMAN; HUMAN CELL; INFANT; INTRAMUSCULAR DRUG ADMINISTRATION; MALE; METHYLMALONIC ACIDURIA; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEWBORN; ONSET AGE; PHENOTYPE; PROGNOSIS; PSYCHOSIS; SEIZURE; SURVIVAL; SYMPTOM; TREATMENT OUTCOME; VITAMIN METABOLISM;

ADOLESCENT; AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC COMPLEMENTATION TEST; HOMOCYSTINURIA; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHYLMALONIC ACID; NERVOUS SYSTEM DISEASES; PHENOTYPE; PREGNANCY; PROGNOSIS; TREATMENT OUTCOME;

EID: 0030843127     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005353530303     Document Type: Article

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