High incidence of later-onset fabry disease revealed by newborn screening.
By M. Spada, S. Pagliardini, Makiko Yasuda, T. Tukel, Geetha Thiagarajan, H. Sakuraba, A. Ponzone, R. Desnick. American Journal of Human Genetics, 2006
992 citations recorded by the source corpus.
Subfields: Clinical Biochemistry, Physiology, Rheumatology
View Paper: https://www.semanticscholar.org/paper/cd44bf4e7b43b422e2b83ab0b4f25f5baaff0bb6
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In Physiology
Citations in the corpus
- Fabry disease (2010, background): “Neonatal screening Northern Italy 2004-2006 12 30 Italy [35]”
- The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. (2012, neutral): “The classical clinical presentation of an LSD is a neurodegenerative disease of infancy/childhood (Wraith, 2002), but adultonset variants also occur (Spada et al., 2006; Nixon et al., 2008; Shapiro et al., 2008).”