Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes

Journal of Inherited Metabolic Disease

Volumn 35, Issue 1, 2012, Pages 103-114

  Carrillo Carrasco, Nuria ^a   Venditti, Charles P ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BETAINE; COBALAMIN C; COBALAMIN DERIVATIVE; CYANOCOBALAMIN; FOLIC ACID; HOMOCYSTEINE; HYDROXOCOBALAMIN; METHYLMALONIC ACID; UNCLASSIFIED DRUG;

COBALAMIN C DISEASE; COGNITIVE DEFECT; DISEASE ASSOCIATION; DISEASE SEVERITY; DRUG SUBSTITUTION; DRUG TREATMENT FAILURE; DRUG WITHDRAWAL; EYE DISEASE; GROWTH DISORDER; HEART DISEASE; HEMATOLOGIC DISEASE; HEMOLYTIC UREMIC SYNDROME; HOMOCYSTINURIA; HUMAN; KIDNEY DISEASE; METABOLIC DISORDER; METHYLMALONIC ACIDEMIA; MORTALITY; NEUROLOGIC DISEASE; OUTCOME ASSESSMENT; PATHOPHYSIOLOGY; REVIEW; SEIZURE; THROMBOTIC THROMBOCYTOPENIC PURPURA; VASCULAR DISEASE;

ADOLESCENT; ADULT; AGED; AMINO ACID METABOLISM, INBORN ERRORS; CARRIER PROTEINS; CENTRAL NERVOUS SYSTEM; CHILD; CHILD, PRESCHOOL; EYE DISEASES; FEMALE; HOMOCYSTEINE; HOMOCYSTINURIA; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; PREGNANCY;

EID: 84858749325     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9365-x     Document Type: Review

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