Hasil Pencarian - Suma P. Shankar

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  1. 1
    Retinal dystrophies: A look beyond the eyes

    Retinal dystrophies: A look beyond the eyes oleh Vincent Duong Tang, Alena Egense, Glenn Yiu, Elijah Meyers, Ala Moshiri, Suma P. Shankar

    Diterbitkan 2022-09-01
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  2. 2
    Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features

    Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features oleh Rossana L. Sanchez, Jiong Yan, Sarah Richards, Gary Mierau, Eric P. Wartchow, Christin D. Collins, Suma P. Shankar

    Diterbitkan 2016-12-01
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  3. 3
    Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

    Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism oleh Ruchi Punatar, Alena Egense, Rong Mao, Melinda Procter, Michelle Bosworth, Denise I. Quigley, Kathleen Angkustsiri, Suma P. Shankar

    Diterbitkan 2022-10-01
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  4. 4
    Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial

    Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial oleh Raphael Schiffmann, Daniel G. Bichet, Ana Jovanovic, Derralynn A. Hughes, Roberto Giugliani, Ulla Feldt-Rasmussen, Suma P. Shankar, Laura Barisoni, Robert B. Colvin, J. Charles Jennette, Fred Holdbrook, Andrew Mulberg, Jeffrey P. Castelli, Nina Skuban, Jay A. Barth, Kathleen Nicholls

    Diterbitkan 2018-04-01
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  5. 5
    Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

    Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial. oleh Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami

    Diterbitkan 2015-01-01
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