article Open AccessTop 1% cited
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
The American Journal of Human Genetics · 2006 · Vol. 79(1) · pp. 31–40
Marco Spada✉(University of Turin)Severo Pagliardini(Ospedale Regina Margherita)Makiko Yasuda(Icahn School of Medicine at Mount Sinai)Turgut Tükel(Icahn School of Medicine at Mount Sinai)Geetha Thiagarajan(New York University)Hitoshi Sakuraba(Tokyo Metropolitan Institute of Medical Science)Alberto Ponzone(University of Turin)Robert J. Desnick(New York University)
Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusMetabolism and Genetic DisordersIncidence (geometry)Fabry diseaseNewborn screeningPediatricsMedicineDiseaseInternal medicinePhysics
MeSH terms
AdultFabry DiseaseFemaleHumansInfant, NewbornMalePedigreePhenotypeRNA SplicingIncidenceNeonatal ScreeningAge of OnsetMutation, Missense
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997
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Cited by
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Journal of Medical Genetics · 2016 · 380 citations
References
The Metabolic and Molecular Bases of Inherited Disease
Medical Entomology and Zoology · 1995 · 12,175 citations
The metabolic and molecular bases of inherited disease
Medical Entomology and Zoology · 2001 · 6,946 citations
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