Article révisé par les pairs
Titre:
  • Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.
Auteur:Aeby, Alec; Sznajer, Yves; Cavé, H; Rebuffat, Elizabeth; Van Coster, Rudy; Rigal, O; Van Bogaert, Patrick
Informations sur la publication:Journal of inherited metabolic disease, 30, 5, page (827)
Statut de publication:Publié, 2007-10
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Abnormalities, Multiple -- enzymology
Child, Preschool
Coenzymes -- deficiency
Coenzymes -- therapeutic use
Craniofacial Abnormalities -- complications
Craniofacial Abnormalities -- enzymology
Female
Heart Defects, Congenital -- complications
Heart Defects, Congenital -- enzymology
Humans
MAP Kinase Signaling System
Mitochondria -- enzymology
Mitochondrial Diseases -- complications
Mitochondrial Diseases -- drug therapy
Mitochondrial Diseases -- enzymology
Muscle, Skeletal -- enzymology
Skin Abnormalities -- complications
Skin Abnormalities -- enzymology
Syndrome
Treatment Outcome
Ubiquinone -- analogs & derivatives
Ubiquinone -- deficiency
Ubiquinone -- therapeutic use
Note générale:Journal Article
Langue:Anglais
Identificateurs:urn:issn:0141-8955
info:doi/10.1007/s10545-007-0612-0
info:scp/35448950741
info:pmid/17703371