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Journal of Human Genetics|April 5, 2007
Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysisShin Hayashi, Shozo Honda, Maki Minaguchi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 1, 2019
Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 TrialTorayuki Okuyama, Yoshikatsu Eto, Norio Sakai, et al.
BMC Medical Genetics|October 13, 2011
Systematic analysis of mitochondrial genes associated with hearing loss in the Japanese population: dHPLC reveals a new candidate mutationHideki Mutai, Hiroko Kouike, Eiko Teruya, et al.
Molecular Genetics and Metabolism Reports|October 3, 2022
Automated urinary sediment detection for Fabry disease using deep-learning algorithmsHidetaka Uryu, Ohsuke Migita, Minami Ozawa, et al.
Molecular Genetics and Metabolism Reports|December 18, 2020
A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfataseYasuyuki Fukuhara, Ai Miura, Narutoshi Yamazaki, et al.
Molecular Genetics and Metabolism|April 14, 2009
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationShingo Kumamoto, Tatsuya Katafuchi, Kimitoshi Nakamura, et al.
Human Genome Variation|January 15, 2020
Normal early development in siblings with novel compound heterozygous variants in ASPMTaro Moriwaki, Narutoshi Yamazaki, Tetsumin So, et al.
American Journal of Medical Genetics|July 13, 2002
Paternal UPD14 is responsible for a distinctive malformation complexKenji Kurosawa, Hiroyuki Sasaki, Yoshiaki Sato, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|October 10, 2020
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-IITorayuki Okuyama, Yoshikatsu Eto, Norio Sakai, et al.
Pediatrics|November 23, 2017
Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease SpectrumDavid F Kronn, Debra Day-Salvatore, Wuh-Liang Hwu, et al.
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