Tetsumin So
Setagaya, 1578535, Japan
Last Updated: 09/26/2026
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Found 8 publications
Interim analysis of post-marketing surveillance study of intracerebroventricular idursulfase therapy for neuronopathic mucopolysaccharidosis type II: Safety and effectiveness in clinical practice in Japan.
Journal: Molecular genetics and metabolism
Published: May 08, 2026
Newborn Screening and Early Cord Blood Transplant for Mucopolysaccharidosis.
Journal: JAMA network open
Published: May 04, 2026
Automated detection of mulberry bodies in urinary sediment for non-invasive Fabry disease screening.
Automated detection of mulberry bodies in urinary sediment for non-invasive Fabry disease screening.
Journal: Clinical chemistry and laboratory medicine
Published: March 06, 2026
Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.
Journal: Human genome variation
Published: July 14, 2025
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C.
Journal: Brain & development
Published: January 09, 2024
Maternal uniparental disomy of chromosome 7 underlying argininosuccinic aciduria and Silver-Russell syndrome.
Journal: Human genome variation
Published: August 02, 2022
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-sulfatase.
Journal: Molecular genetics and metabolism reports
Published: November 27, 2020
Normal early development in siblings with novel compound heterozygous variants in ASPM.
Journal: Human genome variation
Published: September 19, 2019
Showing 1-8 of 8
Last Updated: 09/26/2026