Chediak-Higashi Syndrome: Pathognomonic Feature
Lancet 382:1514, Antunes, H.,et al, 2013
Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995
Cerebromeningeal Haemophagocytic Lymphohistiocytosis
Lancet 239:104-107, Henter,J.&Elinder,G., 1992
Diagnosis of Treatable Wilson's Disease
NEJM 298:1347, Cartwright,G.E., 1978