Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.
Illsinger
S
S
Marquardt
I
I
Lücke
T
T
Hellerud
C
C
Korenke
C
C
Das
A M
AM
D002675:Child, Preschool; D041321:Chromosomes, Human, X; D018752:Diet, Fat-Restricted; D005990:Glycerol / Q000652:urine*; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D006953:Hyperlipoproteinemia Type IV / Q000178:diet therapy / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D009422:Nervous System Diseases / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics*; D010641:Phenotype; D012307:Risk Factors; D012729:Sex Chromosome Aberrations; D013398:Sudden Infant Death / Q000235:genetics
D005991:Glycerol Kinase; D005990:Glycerol