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Rosaria Tuzzi
Rosaria Tuzzi
X chromosome
Missense mutation
Genetics
Arylsulfatase E
Endocrinology
2
Papers
32
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P16. Deficiency of lysosomal acid alpha-glucosidase in a patient with dystroglycanopathy due to gmppb deficiency
2019
Vincenza Gragnaniello
Simona Fecarotta
Antonietta Tarallo
Carla Damiano
Nadia Minopoli
Rosaria Tuzzi
Roberto Della Casa
Domenico Garozzo
Luisa Sturiale
Rita Barone
Giancarlo Parenti
Naples
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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
2002
American Journal of Medical Genetics Part A
Nicola Brunetti-Pierri
Maria Vittoria Andreucci
Rosaria Tuzzi
Giovanna Roberta Vega
George Gray
Carol McKeown
Andrea Ballabio
Generoso Andria
Germana Meroni
Giancarlo Parenti
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Citations (32)
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