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Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? by María-Jesús Sobrido, Peter Bauer, Tom de Koning, Thomas Klopstock, Yann Nadjar, Marc C Patterson, Matthis Synofzik, Chris J Hendriksz
Published 2019-01-01
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The Eight and a Half Year Journey of Undiagnosed AD: Gene Sequencing and Funding of Advanced Genetic Testing Has Led to Hope and New Beginnings by Illana Gozes, Marc C. Patterson, Anke Van Dijck, R. Frank Kooy, Joseph N. Peeden, Jacob A. Eichenberger, Angela Zawacki-Downing, Sandra Bedrosian-Sermone
Published 2017-05-01
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