1,720,987 research outputs found
Type 3 Gaucher’s disease in a three year old child: saccadic eye movements analysis
No full textGaucher’s disease (GD) is an autosomal-recessive disorder that leads to the storage of sphingolipid material (glucocerebroside) in different peripheral tissues and sometimes in the central nervous system. Among its 3 existing forms, the most frequent non-neurological form (type 1: GD1) is treatable with appropriate amounts of exogenous enzyme-replacement therapy (ERT), whereas in the type 3 form (GD3), progression of the neurological involvement may be slowed down or halted by much higher doses of ERT than those used in GD1 because of the inability of ERT to cross the blood–brain barrier
Early alterations in saccadic eye movements of a 4-years-old child affected by Gaucher’s disease
No full text
Enzyme replacement therapy in type 2 Gaucher's disease: modification of glycolipid composition in the cerebrospinal fluid.
No full textTerapia enzimatica sostitutiva nella malattia di Gaucher tipo 2: modificazione della composizione dei glicolipidi nel liquido cerebrospinale
No full text
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Glycolipid composition in a type 2 Gaucher cerebral spinal Fluid (CSF) during enzyme replacement therapy
No full textSaccadic eye movements in a type 3 gaucher's disease child during enzyme replacement therapy
No full text- …
