Publications by authors named "Gessami Sanchez"
J Inherit Metab Dis
August 2006
Article Synopsis
- Homozygosity for the D409H mutation is linked to a severe type III disease characterized mainly by cardiovascular issues, with minimal neurological symptoms.
- Three patients (1 Greek, 2 Albanians) were identified to have both the D409H/D409H genotype and a severe early-onset neurological phenotype, classified as type II.
- The full coding region of the GBA gene showed these patients were homozygous for both D409H and H255Q mutations, with the double allele being present in other populations but absent in Spanish patients with D409H.
