Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 3 publications
New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.
Journal: JIMD reports
Published: March 18, 2015
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
Journal: Molecular genetics and metabolism reports
Published: May 24, 2014
A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.
Journal: American journal of human genetics
Published: March 09, 2012
Showing 1-3 of 3
Last Updated: 09/26/2026