Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria

Annals of Thoracic Surgery

Volumn 72, Issue 4, 2001, Pages 1391-1392

  Heinemann, Markus K ^a   Tomaske, Maren ^a   Trefz, Friedrich K ^b   Bosk, Axel ^a   Baden, Winfried ^a   Ziemer, Gerhard ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b Zentrum Stoffwechseldiagnostik R   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BETAINE; COBALAMIN; DOPAMINE; FOLIC ACID; HYDROXOCOBALAMIN; METHYLMALONYL COENZYME A MUTASE; PYRIDOXINE; SOTALOL;

ARTICLE; CASE REPORT; CHOLECYSTECTOMY; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; HEART VENTRICLE SEPTUM DEFECT; HOMOCYSTINURIA; HUMAN; ISCHEMIA; METHYLMALONIC ACIDEMIA; NEWBORN; POSTOPERATIVE COMPLICATION; PRIORITY JOURNAL; TACHYCARDIA;

AMINO ACID METABOLISM, INBORN ERRORS; BLOOD VESSEL PROSTHESIS IMPLANTATION; FEMALE; HEART SEPTAL DEFECTS, VENTRICULAR; HOMOCYSTINURIA; HUMANS; INFANT, NEWBORN; METHYLMALONIC ACID; PERIOPERATIVE CARE;

EID: 0034779187     PISSN: 00034975     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0003-4975(00)02605-9     Document Type: Article

References (5)

1. Inherited disorders of cobalamin transport and metabolism
2. Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC)
3. Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD)
4. Remethylation defects: Guidelines for clinical diagnosis and treatment
5. Substrate disposal in metabolic disease: A comparison between rates of in vivo propionate oxidation and urinary metabolite excretion in children with methylmalonic acidemia