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
Mots-clés MeSH : 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 : Journal Article
Langue :
  • Anglais
Identificateurs : urn:issn:0141-8955 
info:doi/10.1007/s10545-007-0612-0
info:pmid/17703371