Fetal and Pediatric Pathology · 2005 · 18 citations · 16 references
MedicinePathobiologyPathologyMolecular PathologyAcid-base DisordersClinicopathologic Features
A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
16
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 752 citations
Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome
Fukiko Ichida, Shinichi Tsubata, Karla R. Bowles et al. · Circulation · 2001 · 558 citations
Medicine, Cardiology, Genetics +17
Deficiency of tetralinoleoyl‐cardiolipin in Barth syndrome
Michael Schlame, Jeffrey A. Towbin, Paul M. Heerdt et al. · Annals of Neurology · 2002 · 277 citations