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Journal of Medical Genetics|December 21, 2022
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomesDerralynn A Hughes, Daniel G Bichet, Roberto Giugliani, et al.American Journal of Medical Genetics. Part A|May 4, 2023
Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndromeHiroshi Kurosaka, Sayuri Yamamoto, Kyoko Hirasawa, et al.International Journal of Molecular Sciences|October 23, 2021
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical DataRoberto Giugliani, Ana Maria Martins, Torayuki Okuyama, et al.British Journal of Pharmacology|April 5, 2005
Protein kinase C-alpha mediates TNF release process in RBL-2H3 mast cellsIhab T Abdel-Raheem, Izumi Hide, Yuhki Yanase, et al.Gene|December 26, 2012
14-3-3ε gene variants in a Japanese patient with left ventricular noncompaction and hypoplasia of the corpus callosumBo Chang, Carlos Gorbea, George Lezin, et al.Human Molecular Genetics|December 26, 2016
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptomsHidehito Kondo, Nadezda Maksimova, Takanobu Otomo, et al.Genes to Cells : Devoted to Molecular & Cellular Mechanisms|November 5, 2019
Enhanced processivity of Dnmt1 by monoubiquitinated histone H3Yuichi Mishima, Laura Brueckner, Saori Takahashi, et al.Molecular Genetics and Metabolism|October 2, 2012
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in JapanAkemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki, et al.Current Issues in Molecular Biology|July 2, 2021
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese CohortHiroki Maruyama, Atsumi Taguchi, Mariko Mikame, et al.Orphanet Journal of Rare Diseases|July 24, 2025
Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophyTakanori Onuki, Makiko Tajika, Yohei Sugiyama, et al.Pageof 28