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Marta Sabbadini

University of California, San Francisco

10

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145

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Response to Biesecker

2019 Genetics in Medicine
- Bryce A. Mendelsohn
- Marta Sabbadini
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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease

2019 Genetics in Medicine
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An immune tolerance approach using methotrexate in the naïve setting of patients treated with a therapeutic protein: Experience in infantile Pompe disease

2018 Molecular Genetics and Metabolism
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Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1

2017 European Journal of Medical Genetics
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Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: A safe, inexpensive, widely accessible, and efficacious strategy

2016 Molecular Genetics and Metabolism
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Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes.

2016 American Journal of Medical Genetics Part A
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International Genetic Counseling Students’ Perspective on Their Training Experience in the United States

2013 Journal of Genetic Counseling
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Molecular Biology of Background K Channels : Insights from K2P Knockout Mice

2009 Journal of Molecular Biology
- Marta Sabbadini
- C. Spencer Yost
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Citations (21)