Pickens, "Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion," The Journal of Pediatrics, vol.
Salisbury, "Congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syndrome," Clinical Chemistry, vol.
Dipple, "IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1," Human Mutation, vol.
NR0B1 (DAX1), GK: glycerol kinase gene, FTHL17: the testis specific ferritin heavy chain gene, and DMD: dystrophin gene.
Glycerol kinase deficiency (GKD) is an X-linked recessive disorder that presents in both isolated and complex forms.
The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons.
Isolated and contiguous glycerol kinase gene disorders: a review [Review].
Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.
Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene.
Mutations and phenotype in isolated glycerol kinase deficiency.
Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.