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Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: Effect of the E326K change in neonatal and classic forms of the disease

✍ Scribed by Amparo Chabás; Laura Gort; Anna Díaz-Font; Magdalena Montfort; Raül Santamaría; Manuel Cidrás; Daniel Grinberg; Lluïsa Vilageliu


Book ID
116304041
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
112 KB
Volume
35
Category
Article
ISSN
1079-9796

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