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Makiko Yasuda

Showing results (1-10 of 39) with videos related to

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Rinsho Shinkeigaku = Clinical Neurology|December 13, 2023
[Acute hepatic porphyrias: pathophysiology and pathogenesis of acute attacks]Makiko Yasuda
Molecular Genetics and Metabolism|February 10, 2019
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapiesMakiko Yasuda, Robert J Desnick
Blood|April 7, 2023
RNA interference therapy in acute hepatic porphyriasMakiko Yasuda, Siobán Keel, Manisha Balwani
Molecular Genetics and Metabolism|December 31, 2018
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genesMakiko Yasuda, Brenden Chen, Robert J Desnick
Journal of Inherited Metabolic Disease|November 21, 2024
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disordersCalogera M Simonaro, Makiko Yasuda, Edward H Schuchman
Molecular Genetics and Metabolism|August 15, 2002
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotypeJunaid Shabbeer, Makiko Yasuda, Edlira Luca, et al.
American Journal of Human Genetics|June 11, 2003
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formationMakiko Yasuda, Junaid Shabbeer, Makiko Osawa, et al.
Human Genomics|April 6, 2006
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutationsJunaid Shabbeer, Makiko Yasuda, Stacy D Benson, et al.
Science (New York, N.Y.)|December 19, 2024
Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA-mediated silencingSeungjae Lee, Sangmi Lee, Robert Desnick, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|April 15, 2024
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and managementManisha Balwani, Siobán Keel, Peter Meissner, et al.
Pageof 4

Showing results (1-10 of 39) with videos related to

Sort By:
Pageof 4
Rinsho Shinkeigaku = Clinical Neurology|December 13, 2023
[Acute hepatic porphyrias: pathophysiology and pathogenesis of acute attacks]Makiko Yasuda
Molecular Genetics and Metabolism|February 10, 2019
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapiesMakiko Yasuda, Robert J Desnick
Blood|April 7, 2023
RNA interference therapy in acute hepatic porphyriasMakiko Yasuda, Siobán Keel, Manisha Balwani
Molecular Genetics and Metabolism|December 31, 2018
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genesMakiko Yasuda, Brenden Chen, Robert J Desnick
Journal of Inherited Metabolic Disease|November 21, 2024
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disordersCalogera M Simonaro, Makiko Yasuda, Edward H Schuchman
Molecular Genetics and Metabolism|August 15, 2002
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotypeJunaid Shabbeer, Makiko Yasuda, Edlira Luca, et al.
American Journal of Human Genetics|June 11, 2003
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formationMakiko Yasuda, Junaid Shabbeer, Makiko Osawa, et al.
Human Genomics|April 6, 2006
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutationsJunaid Shabbeer, Makiko Yasuda, Stacy D Benson, et al.
Science (New York, N.Y.)|December 19, 2024
Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA-mediated silencingSeungjae Lee, Sangmi Lee, Robert Desnick, et al.
Liver International : Official Journal of the International Association for the Study of the Liver|April 15, 2024
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and managementManisha Balwani, Siobán Keel, Peter Meissner, et al.
Pageof 4