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searching for Glycerol kinase deficiency 5 found (11 total)

alternate case: glycerol kinase deficiency

Snyder–Robinson syndrome (825 words) [view diff] exact match in snippet view article find links to article

Adolescence, childhood, infancy Causes Genetic Differential diagnosis Glycerol kinase deficiency, Urban syndrome, Rett syndrome, cerebral palsy, Prader–Willi syndrome

IL1RAPL1 (825 words) [view diff] exact match in snippet view article find links to article

is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1". Hum. Mutat. 24

Adrenal insufficiency (3,543 words) [view diff] exact match in snippet view article find links to article

Allgrove syndrome). DAX-1 mutations may cluster in a syndrome with glycerol kinase deficiency with a number of other symptoms when DAX-1 is deleted together

Addison's disease (4,462 words) [view diff] exact match in snippet view article find links to article

Allgrove syndrome). DAX-1 mutations may cluster in a syndrome with glycerol kinase deficiency with a number of other symptoms when DAX-1 is deleted together

Pseudoathletic appearance (5,216 words) [view diff] exact match in snippet view article find links to article

duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report". BMC