Multidisciplinary Study Based on Clinical, Electrophysiological and Psycological Evaluations Combined with Advanced Neuroimaging in Gaucher Disease Patients
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood-2019-128143
Abstract: Gaucher Disease (GD) is an autosomal recessive metabolic disorder due to glucocerebrosidase deficit. There are three main clinical phenotypes: type I (GD1: non-neuronopathic form), characterized by a visceral involvement that can mimic a hematologic disease;… read more here.
Keywords: gd1; patients gd1; gd1 patients; gd1 gd3 ... See more keywords
The Spectrum of Neurological and Sensory Abnormalities in Gaucher Disease Patients: A Multidisciplinary Study (SENOPRO)
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24108844
Abstract: Gaucher disease (GD) has been increasingly recognized as a continuum of phenotypes with variable neurological and sensory involvement. No study has yet specifically explored the spectrum of neuropsychiatric and sensory abnormalities in GD patients through… read more here.
Keywords: gd1 gd3; sensory abnormalities; neurological sensory; gaucher disease ... See more keywords