title: CblC/D defect combined with haemodynamically highly relevant VSD.
abstract: An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
authors.affiliation: Department of Pediatrics I, University Hospital, Tübingen, Germany. Maren.Tomaske@med.uni-tuebingen.de
authors.forename: M
authors.initials: M
authors.lastname: Tomaske
authors.forename: A
authors.initials: A
authors.lastname: Bosk
authors.forename: M K
authors.initials: MK
authors.lastname: Heinemann
authors.forename: L
authors.initials: L
authors.lastname: Sieverding
authors.forename: E R
authors.initials: ER
authors.lastname: Baumgartner
authors.forename: B
authors.initials: B
authors.lastname: Fowler
authors.forename: F K
authors.initials: FK
authors.lastname: Trefz
mesh_terms: D005260:Female; D005492:Folic Acid / Q000008:administration & dosage; D006345:Heart Septal Defects, Ventricular / Q000150:complications* / Q000175:diagnosis / Q000601:surgery*; D006710:Homocysteine / Q000097:blood; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D006879:Hydroxocobalamin / Q000008:administration & dosage; D007231:Infant, Newborn; D019344:Lactic Acid / Q000097:blood; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D008715:Methionine / Q000097:blood; D008764:Methylmalonic Acid / Q000652:urine*
chemical_list: D006710:Homocysteine; D019344:Lactic Acid; D008764:Methylmalonic Acid; D005492:Folic Acid; D008715:Methionine; D006879:Hydroxocobalamin