A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients.
Kraoua
Ichraf
I
Reference Center for Lysosomal Diseases, Hôpital de la Salpêtrière, Paris, France.
Sedel
Frédéric
F
Caillaud
Catherine
C
Froissart
Roseline
R
Stirnemann
Jérôme
J
Chaurand
Guy
G
Flodrops
Hugues
H
Tari
Saliha
S
Gourfinkel-An
Isabelle
I
Mathieu
Sophie
S
Belmatoug
Nadia
N
Billette de Villemeur
Thierry
T
Mignot
Cyril
C
D000328:Adult; D017668:Age of Onset; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy / Q000379:methods; D005260:Female; D005602:France; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D009460:Neurologic Examination; D010641:Phenotype; D055815:Young Adult
D005962:Glucosylceramidase