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Author/Creator Patterson, Marc C.

23. Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. Issue 6 (December 2017)

Authors:
Patterson, Marc C.; Clayton, Peter; Gissen, Paul; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Dardis, Andrea; Dionisi-Vici, Carlo; Klünemann, Hans-Hermann; Latour, Philippe; Lourenço, Charles M.; Ory, Daniel S.; Parker, Alasdair; Pocoví, Miguel; Strupp, Michael; Vanier, Marie T.; Walterfang, ...
Journal:
Neurology
Issue:
Volume 7:Issue 6(2017)
Page Start:
Record Type:
Journal Article
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24. Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study. Issue 2 (31st August 2020)

Authors:
Qureshi, Muhammad Yasir; Patterson, Marc C.; Clark, Vicki; Johnson, Jonathan N.; Moutvic, Margaret A.; Driscoll, Sherilyn W.; Kemppainen, Jennifer L.; Huston, John; Anderson, Jeff R.; Badley, Andrew D.; Tebben, Peter J.; Wackel, Philip; Oglesbee, Devin; Glockner, James; Schreiner, George; Dugar, ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 2(2021)
Page Start:
502
Record Type:
Journal Article
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26. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019)

Authors:
Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
908
Record Type:
Journal Article
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