Associated Papers
Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.
Barkhuizen M et al.
Neurochemistry International, 2016
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
Jack A et al.
Gene, 2014
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Toone JR et al.
Molecular Genetics and Metabolism, 2003
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