Publications by authors named "Ryosuke Bo"

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Trach and treat: Safety and motor outcomes following onasemnogene abeparvovec in patients with spinal muscular atrophy and tracheostomies in the RESTORE registry.
Yasemin Erbaş, Laurent Servais, Perry B Shieh, Natalie L Goedeker, Megan A Waldrop, Ryosuke Bo

J Neuromuscul Dis· November 2025

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Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.
Terumi Murakami, Takatoshi Sato, Takami Ishizuka, Harumasa Nakamura, Hisateru Tachimori, Ryosuke Bo

Neuropsychopharmacol Rep· September 2025

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Serum titin/creatinine ratio as a biomarker for discriminating disease severity in Duchenne and Becker muscular dystrophies.
Yoshinori Nambu, Kayo Osawa, Taku Shirakawa, Aiko Sunami, Shoko Sonehara, Ryosuke Bo

Front Neurol· July 2025

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Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.
Takanori Onuki, Makiko Tajika, Yohei Sugiyama, Masaru Shimura, Keiko Ichimoto, Ryosuke Bo

Orphanet J Rare Dis· July 2025

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Incidence of Homozygous Deletion in Japan: Cross-Reactivity of Primers with Sequence Causes False Negatives in Real-Time PCR Screening.
Makoto Sakima, Yoshihiro Bouike, Shin-Ichi Wada, Masami Nakamae, Yoriko Noguchi, Ryosuke Bo

Genes (Basel)· June 2025

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A noncontact vital sign sensor demonstrating a strong correlation with an electrocardiogram electrode and a CO sensor.
Tatsuya Nagano, Nobuyuki Yamamoto, Sae Shinomiya, Hiroshi Kato, Mariko Okamoto, Ryosuke Bo

Sci Rep· May 2025

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Laparoscopic Liver Resection for Hepatocellular Adenomas in Pediatric Glycogen Storage Disease Type Ia: A Case With Consideration for Future Transplantation.
Kentaro Oji, Takeshi Urade, Ryosuke Bo, Masahiro Kido, Shohei Komatsu

Asian J Endosc Surg· May 2025

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The N-Terminal Fragment of Urine Titin Is Not a Product of Degradation by Calpain 3.
Yoshinori Nambu, Tsuyoshi Matsumura, Kyoka Machida, Rie Tsutsumi, Shoji Hata, Ryosuke Bo

Muscle Nerve· March 2025

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Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III.
Kiiko Iketani, Hiroyuki Awano, Hiromi Hashimura, Shoko Sonehara, Hiroaki Hanafusa, Ryosuke Bo

Diagnostics (Basel)· March 2025

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Fragmented QRS in Lateral Leads on Electrocardiography Is Associated with Cardiac Dysfunction and Left Ventricular Dilation in Duchenne Muscular Dystrophy.
Tetsushi Yamamoto, Shuichiro Ogawa, Yusuke Ide, Kokoro Miyazaki, Aiko Sunami, Ryosuke Bo

Biomedicines· March 2025

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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.
Sungwon Hong, Kiiko Iketani, Shoko Sonehara, Hiroaki Hanafusa, Yoshinori Nambu, Ryosuke Bo

Kobe J Med Sci· February 2025

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Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.
Sanae Naito, Sachiyo Fukushima, Hiroaki Hanafusa, Tomoaki Ioroi, Hiroyuki Awano, Ryosuke Bo

Pediatr Int· January 2025

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Health-related quality of life and caregiver burden of pediatric patients with inborn errors of metabolism in Japan using EQ-5D-Y, PedsQL, and J-ZBI.
Keiko Konomura, Chikahiko Numakura, Akari Nakamura-Utsunomiya, Eri Hoshino, Go Tajima, Ryosuke Bo

Qual Life Res· December 2024

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Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening.
Jun Kido, Johannes Häberle, Toju Tanaka, Masayoshi Nagao, Yoichi Wada, Ryosuke Bo

J Inherit Metab Dis· November 2024

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Long-term course of gastrostomy nutritional management in patients with Duchenne muscular dystrophy: A retrospective cohort study.
Yuki Takanarita, Yuichi Okata, Hiroyuki Awano, Ryosuke Bo, Yuko Bitoh

J Clin Neurosci· November 2024

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Response to: Is pancreatitis actually a phenotypic manifestation of Leigh syndrome?
Kengo Nakashima, Ryosuke Bo, Hiroyuki Awano, Masahiro Nishiyama, Kazumoto Iijima

Pediatr Int· July 2024

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Newborn Screening for Spinal Muscular Atrophy: A 2.5-Year Experience in Hyogo Prefecture, Japan.
Shoko Sonehara, Ryosuke Bo, Yoshinori Nambu, Kiiko Iketani, Tomoko Lee

Genes (Basel)· December 2023

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Electrocardiographic R wave amplitude in V6 lead as a predictive marker of cardiac dysfunction in Duchenne muscular dystrophy.
Tetsushi Yamamoto, Yoshinori Nambu, Ryosuke Bo, Shotaro Morichi, Misato Yanagiya

J Cardiol· November 2023

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Real-Time PCR-Based Screening for Homozygous Deletion Using Residual Dried Blood Spots.
Yoshihiro Bouike, Makoto Sakima, Yuya Taninishi, Takanori Matsutani, Yoriko Noguchi, Ryosuke Bo

Genes (Basel)· November 2023

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Correction: Noguchi et al. PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan. 2022, , 2110.
Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiro Bouike

Genes (Basel)· March 2023

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Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in , a common Japanese variant, causes a mortal phenotype.
Kenji Yamada, Yoshimitsu Osawa, Hironori Kobayashi, Ryosuke Bo, Yuichi Mushimoto

Mol Genet Metab Rep· December 2022

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PCR-Based Screening of Spinal Muscular Atrophy for Newborn Infants in Hyogo Prefecture, Japan.
Yoriko Noguchi, Ryosuke Bo, Hisahide Nishio, Hisayuki Matsumoto, Keiji Matsui, Yoshihiro Bouike

Genes (Basel)· November 2022

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Frequent recurrence of pancreatitis in a patient with Leigh syndrome.
Kengo Nakashima, Ryosuke Bo, Hiroyuki Awano, Masahiro Nishiyama, Kazumoto Iijima

Pediatr Int· January 2022

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The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.
Ryosuke Bo, Hiroyuki Awano, Kenji Yamada, Mayu Ooi, Yuichi Okata

Mol Genet Metab Rep· June 2021

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The ACTN3 577XX Null Genotype Is Associated with Low Left Ventricular Dilation-Free Survival Rate in Patients with Duchenne Muscular Dystrophy.
Masashi Nagai, Hiroyuki Awano, Tetsushi Yamamoto, Ryosuke Bo, Masafumi Matsuo

J Card Fail· October 2020

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