Shinsuke Maruyama
Kagoshima, Japan
Last Updated: 09/26/2026
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Found 27 publications
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
Resolution of brady- and tachyarrhythmias with everolimus in a child with tuberous sclerosis complex: A case report.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: July 22, 2025
Intrathecal Baclofen Therapy Improves Refractory Status Dystonicus in Neuro-hepatic Wilson's Disease: A Case Report.
Journal: NMC case report journal
Published: September 17, 2024
Phase 1/2 trial of brogidirsen: Dual-targeting antisense oligonucleotides for exon 44 skipping in Duchenne muscular dystrophy.
Journal: Cell reports. Medicine
Published: March 20, 2024
Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.
Journal: Pediatric neurology
Published: December 27, 2023
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 10, 2023
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Journal: Journal of inherited metabolic disease
Published: May 22, 2023
Systemic administration of the antisense oligonucleotide NS-089/NCNP-02 for skipping of exon 44 in patients with Duchenne muscular dystrophy: Study protocol for a phase I/II clinical trial.
Journal: Neuropsychopharmacology reports
Published: December 22, 2022
Exploratory evaluation of an eye-tracking system in patients with advanced spinal muscular atrophy type I receiving nusinersen.
Journal: Frontiers in neurology
Published: April 12, 2022
Early infantile paroxysmal atrioventricular block with autonomic nervous system dysfunction: A case report and literature review.
Journal: Journal of paediatrics and child health
Published: February 04, 2022
Last Updated: 09/26/2026