Concepedia

Sialidosis Presenting as Severe Nonimmune Fetal Hydrops is Associated with Two Novel Mutations in Lysosomal α-Neuraminidase

David J. Loren, Yvan Campos, Alessandra d’Azzo, Lance Wyble, Dorothy K. Grange, Enid Gilbert‐Barness, Frances V. White, Aaron Hamvas

Journal of Perinatology · 2005 · 21 citations · 15 references

DOI

Concepts

References

15

A New View of Starling's Hypothesis at the Microstructural Level

Xiaping Hu, Sheldon Weinbaum · Microvascular Research · 1999 · 162 citations

, , +7

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

Erik Bonten · Human Molecular Genetics · 2000 · 150 citations

, , +17

Transport of human lysosomal neuraminidase to mature lysosomes requires protective protein/cathepsin A

Aarnoud C. van der Spoel · The EMBO Journal · 1998 · 135 citations · Full text

, , +14

Human placental neuraminidase

Frans W. Verheijen, Silvia Palmeri, A. T. Hoogeveen et al. · European Journal of Biochemistry · 1985 · 133 citations

, , +10

Hydrops Fetalis: Lysosomal Storage Disorders In Extremis

Deborah L. Stone, Ellen Sidransky · Advances in Pediatrics · 1999 · 98 citations

, , +14