Ryosuke Bo
Kobe, 6500017, 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.
Journal: International journal of neonatal screening
Published: April 13, 2026
A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.
Journal: Brain & development
Published: January 15, 2026
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.
Journal: Biochemistry and biophysics reports
Published: December 22, 2025
Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry.
Journal: Journal of neuromuscular diseases
Published: November 11, 2025
Epidemiological characterization and clinical utility of the multiplex PCR FilmArray™ Gastrointestinal Panel at a tertiary university hospital in Japan, 2024.
Journal: Pediatrics and neonatology
Published: May 15, 2025
Laparoscopic Liver Resection for Hepatocellular Adenomas in Pediatric Glycogen Storage Disease Type Ia: A Case With Consideration for Future Transplantation.
Journal: Asian journal of endoscopic surgery
Published: March 27, 2025
Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies.
Journal: Frontiers in neurology
Published: March 11, 2025
Fragmented QRS in Lateral Leads on Electrocardiography Is Associated with Cardiac Dysfunction and Left Ventricular Dilation in Duchenne Muscular Dystrophy.
Journal: Biomedicines
Published: March 06, 2025
Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: February 26, 2025
Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan.
Journal: The Kobe journal of medical sciences
Published: February 24, 2025
Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.
Journal: Neuropsychopharmacology reports
Published: February 24, 2025
Last Updated: 09/26/2026