A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency von Lines, Matthew A, Cuillerier, Alexanne, Chakraborty, Pranesh, Naas, Turaya, Duque Lasio, M Laura, Michaud, Jean, Pileggi, Chantal, Harper, Mary-Ellen, Burelle, Yan, Toler, Tomi L, Sondheimer, Neal, Crawford, Heather P, Millan, Francisca, Geraghty, Michael T

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Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin von Lasio, M. Laura Duque, Leshinski, Angela C., Ducich, Nicole H., Flore, Leigh Anne, Lehman, April, Shur, Natasha, Jayakar, Parul B., Hainline, Bryan E., Basinger, Alice A., Wilson, William G., Diaz, George A., Erbe, Richard W., Koeberl, Dwight D., Vockley, Jerry, Bedoyan, Jirair K.

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Words matter: The language of difference in human genetics von Cho, Mildred K., Duque Lasio, Maria Laura, Amarillo, Ina, Mintz, Kevin Todd, Bennett, Robin L., Brothers, Kyle B.

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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities von Wongkittichote, Parith, Duque Lasio, Maria Laura, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M., Toler, Tomi L., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease von Guenzel, Adam J., Turgeon, Coleman T., Nickander, Kim K., White, Amy L., Peck, Dawn S., Pino, Gisele B., Studinski, April L., Prasad, Vinod K., Kurtzberg, Joanne, Escolar, Maria L., Lasio, Maria Laura Duque, Pellegrino, Joan E., Sakonju, Ai, Hickey, Rachel E., Shallow, Natalie M., Ream, Margie A., Orsini, Joseph J., Gelb, Michael H., Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Tortorelli, Silvia, Matern, Dietrich

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Phenotypic, Molecular, and Functional Characterization of CoQ7-Related Primary CoQ10 Deficiency: Novel Hypomorphic Variants and Two Distinct Disease Entities von Wongkittichote, Parith, Lasio, Maria Laura Duque, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M., Toler, Tomi L., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

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Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ 10 deficiency: Hypomorphic variants and two distinct disease entities von Wongkittichote, Parith, Duque Lasio, Maria Laura, Magistrati, Martina, Pathak, Sheel, Sample, Brooke, Carvalho, Daniel Rocha, Ortega, Adriana Banzzatto, Castro, Matheus Augusto Araújo, de Gusmao, Claudio M, Toler, Tomi L, Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan

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