by Remember The Girls | Jul 31, 2022
Back to Previous Hyperglycerolemia Isolated glycerol kinase deficiency (GKD) is a very rare X-linked disorder of glycerol metabolism characterized biochemically by elevated plasma and urine glycerol levels, and clinically by variable neurometabolic manifestations,...
by Remember The Girls | Jul 31, 2022
Back to Previous Giuffré-Tsukahara Syndrome Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short...
by Remember The Girls | Jul 31, 2022
Back to Previous Glucose-6-Phosphate Dehydrogenase Deficiency Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic metabolic abnormality caused by deficiency of the enzyme G6PD. This enzyme is critical for the proper function of red blood cells: when the...
by Remember The Girls | Jul 31, 2022
Back to Previous Liver Glycogenesis (Glycogen Storage Disease Type IX) Glycogen storage disease type IX (GSD-IX) is a group of at least four disorders characterized by a deficiency of the enzyme phosphorylase kinase. This enzyme is necessary to break down (metabolize)...
