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Perinatal lethal Gaucher disease: A case report and review of literature.
Brain Dev. 2023 Feb;45(2):134-139. doi: 10.1016/j.braindev.2022.09.006. Epub 2022 Oct 8.
Brain Dev. 2023.
PMID: 36220738
Review.
Perinatal lethal Gaucher disease is a very rare variant of type 2 Gaucher disease that occurs in the neonatal period and leads to death in early infancy. ...We report a case of perinatal lethal Gaucher disease …
Perinatal lethal Gaucher disease is a very rare variant of type 2 Gaucher disease that occurs in t …
Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.
Eblan MJ, Goker-Alpan O, Sidransky E.
Eblan MJ, et al.
Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. doi: 10.1080/15227950500405296.
Fetal Pediatr Pathol. 2005.
PMID: 16396828
Review.
Gaucher disease, the inherited deficiency of glucocerebrosidase, is characterized by significant genetic and phenotypic heterogeneity. ...The incidence of severe perinatal Gaucher disease may prove more common than currently appreciated with gre …
Gaucher disease, the inherited deficiency of glucocerebrosidase, is characterized by significant genetic and phenotypic hetero …
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Type 2 Gaucher disease: 15 new cases and review of the literature.
Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group.
Mignot C, et al.
Brain Dev. 2006 Jan;28(1):39-48. doi: 10.1016/j.braindev.2005.04.005.
Brain Dev. 2006.
PMID: 16485335
Review.
OBJECTIVES: To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease within the spectrum of early-onset neuronopathic Gaucher disease. ...The natural history and particular signs of perinatal- …
OBJECTIVES: To provide a description of type 2 Gaucher disease. To attempt to define type 2 Gaucher disease with …
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