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- Giugliani, Roberto
- Lukacs, Zoltan
- Dionisi-Vici, Carlo 2
- Lidove, Olivier 2
- Mistry, Pramod K 2
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Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
- McGovern, Margaret M
- Dionisi-Vici, Carlo
- Giugliani, Roberto
- Hwu, Paul
- Lidove, Olivier
- Lukacs, Zoltan
- Eugen Mengel, Karl
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Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
- Fietz, Michael
- AlSayed, Moeenaldeen
- Burke, Derek
- Cohen-Pfeffer, Jessica
- Cooper, Jonathan D
- Dvořáková, Lenka
- Giugliani, Roberto