Tomoko Lee

Nishinomiya-hama, 6638501, Japan

Last Updated: 09/26/2026

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Found 43 publications

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan.

Journal: International journal of neonatal screening
Published: April 13, 2026

Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy.

Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy.

Journal: Brain & development
Published: May 22, 2025

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.

Journal: Genes
Published: August 07, 2024

Experience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy.

Experience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: July 18, 2024

Clinical Characteristics and Treatment of Juvenile Myasthenia Gravis-A Single-Center Experience.

Clinical Characteristics and Treatment of Juvenile Myasthenia Gravis-A Single-Center Experience.

Journal: Children (Basel, Switzerland)
Published: April 02, 2024

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.

Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.

Journal: Genes
Published: November 20, 2023

Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.

Longitudinal data of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy.

Journal: Muscle & nerve
Published: April 16, 2023

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue.

A Pediatric Case of COLQ-Related Congenital Myasthenic Syndrome with Marked Fatigue.

Journal: Children (Basel, Switzerland)
Published: April 06, 2023

Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110.

Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. Genes 2022, 13, 2110.

Journal: Genes
Published: February 16, 2023

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.

PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.

Journal: Genes
Published: October 24, 2022

Severe congenital myasthenic syndrome with novel variants in the CHRND gene.

Severe congenital myasthenic syndrome with novel variants in the CHRND gene.

Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: March 19, 2022

Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan.

Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan.

Journal: Children (Basel, Switzerland)
Published: June 21, 2021
Showing 1-12 of 43

Last Updated: 09/26/2026