Associated Papers
A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant.
Üçem S et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
A Type 3 Gaucher-Like Disease Due To Saposin C Deficiency in Two Emirati Families Caused by a Novel Splice Site Variant in the PSAP Gene.
Mohamed FE et al.
Journal of Molecular Neuroscience : Mn, 2022
The role of saposin C in Gaucher disease.
Tamargo RJ et al.
Molecular Genetics and Metabolism, 2012
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Tylki-Szymańska A et al.
Clinical Genetics, 2007
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