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Hydrops fetalis: lysosomal storage disorders in extremis.
Stone DL, Sidransky E. Stone DL, et al. Adv Pediatr. 1999;46:409-40. Adv Pediatr. 1999. PMID: 10645471 Review.
In several of these disorders, including MPS VII, infantile galactosialidosis, type 2 Gaucher disease, and ISSD, hydrops fetalis is a relatively common presentation. A greater physician awareness of hydrops fetalis as a presentation of lysosomal disease will …
In several of these disorders, including MPS VII, infantile galactosialidosis, type 2 Gaucher disease, and ISSD, hydrops fetalis is a …
New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the beta-galactosidase/neuraminidase complex and the EBP-receptor.
Malvagia S, Morrone A, Caciotti A, Bardelli T, d'Azzo A, Ancora G, Zammarchi E, Donati MA. Malvagia S, et al. Mol Genet Metab. 2004 May;82(1):48-55. doi: 10.1016/j.ymgme.2004.02.007. Mol Genet Metab. 2004. PMID: 15110321
We describe the clinical findings, and the molecular and biochemical studies in an Italian family with recurrent hydrops fetalis due to galactosialidosis (GS). ...Interestingly, a reduced amount of both GLB1 and EBP proteins was detected. These data confirm that PPC …
We describe the clinical findings, and the molecular and biochemical studies in an Italian family with recurrent hydrops fetalis due …