ABSTRACT Homocystinuria is one of a group of genetic disorders called inborn errors of metabolism. It is characterized by a deficiency of the enzyme that converts homocysteine to cystathionine. Kerato
De novo mutations observed in individual IV.1. Sequenced reads were aligned to the hg19 reference human genome downloaded from UCSC and aligned using Burrows–Wheeler alignment (BWA-MEM). De novo</
Objective: Variant non-ketotic hyperglycinaemia (NKH) is a rare disorder characterized by variable clinical, biochemical, and imaging features. The variant form of NKH is rare and characterized by var
