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Published in Molecular genetics and metabolism (01.09.2015)
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Published in Molecular genetics and metabolism (01.07.2017)
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Published in Molecular genetics and metabolism (01.01.2023)
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European expert consensus statement on therapeutic goals in Fabry disease
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Published in Molecular genetics and metabolism (01.07.2018)
Published in Molecular genetics and metabolism (01.07.2018)
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Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
Strauss, Kevin A., Carson, Vincent J., Soltys, Kyle, Young, Millie E., Bowser, Lauren E., Puffenberger, Erik G., Brigatti, Karlla W., Williams, Katie B., Robinson, Donna L., Hendrickson, Christine, Beiler, Keturah, Taylor, Cora M., Haas-Givler, Barbara, Chopko, Stephanie, Hailey, Jennifer, Muelly, Emilie R., Shellmer, Diana A., Radcliff, Zachary, Rodrigues, Ashlin, Loeven, KaLynn, Heaps, Adam D., Mazariegos, George V., Morton, D. Holmes
Published in Molecular genetics and metabolism (01.03.2020)
Published in Molecular genetics and metabolism (01.03.2020)
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Therapies for mitochondrial diseases and current clinical trials
El-Hattab, Ayman W., Zarante, Ana Maria, Almannai, Mohammed, Scaglia, Fernando
Published in Molecular genetics and metabolism (01.11.2017)
Published in Molecular genetics and metabolism (01.11.2017)
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Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases
El-Hattab, Ayman W., Suleiman, Jehan, Almannai, Mohammed, Scaglia, Fernando
Published in Molecular genetics and metabolism (01.12.2018)
Published in Molecular genetics and metabolism (01.12.2018)
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Published in Molecular genetics and metabolism (01.05.2018)
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Wongkittichote, Parith, Ah Mew, Nicholas, Chapman, Kimberly A.
Published in Molecular genetics and metabolism (01.12.2017)
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Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
Braverman, Nancy E., Raymond, Gerald V., Rizzo, William B., Moser, Ann B., Wilkinson, Mark E., Stone, Edwin M., Steinberg, Steven J., Wangler, Michael F., Rush, Eric T., Hacia, Joseph G., Bose, Mousumi
Published in Molecular genetics and metabolism (01.03.2016)
Published in Molecular genetics and metabolism (01.03.2016)
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Chan, Justin, Desai, Ankit K., Kazi, Zoheb B., Corey, Kaitlyn, Austin, Stephanie, Hobson-Webb, Lisa D., Case, Laura E., Jones, Harrison N., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.03.2017)
Published in Molecular genetics and metabolism (01.03.2017)
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Adherence to clinic recommendations among patients with phenylketonuria in the United States
Jurecki, E.R., Cederbaum, S., Kopesky, J., Perry, K., Rohr, F., Sanchez-Valle, A., Viau, K.S., Sheinin, M.Y., Cohen-Pfeffer, J.L.
Published in Molecular genetics and metabolism (01.03.2017)
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Published in Molecular genetics and metabolism (01.04.2015)
Published in Molecular genetics and metabolism (01.04.2015)
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The challenge of CDG diagnosis
Francisco, R., Marques-da-Silva, D., Brasil, S., Pascoal, C., dos Reis Ferreira, V., Morava, E., Jaeken, J.
Published in Molecular genetics and metabolism (01.01.2019)
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Dewulf, Joseph P., Marie, Sandrine, Nassogne, Marie-Cécile
Published in Molecular genetics and metabolism (01.07.2022)
Published in Molecular genetics and metabolism (01.07.2022)
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An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease
Germain, Dominique P., Altarescu, Gheona, Barriales-Villa, Roberto, Mignani, Renzo, Pawlaczyk, Krzysztof, Pieruzzi, Federico, Terryn, Wim, Vujkovac, Bojan, Ortiz, Alberto
Published in Molecular genetics and metabolism (01.09.2022)
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Patterson, Marc C., Hendriksz, Christian J., Walterfang, Mark, Sedel, Frederic, Vanier, Marie T., Wijburg, Frits
Published in Molecular genetics and metabolism (01.07.2012)
Published in Molecular genetics and metabolism (01.07.2012)
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Conference Proceeding