Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
- Hiroshi Kobayashi, Y. Shimada, H. Ida
- MedicineMolecular Genetics and Metabolism
- 1 May 2010
Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy.
- Hidemi Kajimoto, K. Ishigaki, T. Nakanishi
- MedicineCirculation Journal
- 20 July 2006
Carvedilol plus an ACEI improves left ventricular systolic function in patients with muscular dystrophy.
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
- S. Ito, H. Oguni, Yasushi Ito, K. Ishigaki, J. Ohinata, M. Ōsawa
- MedicineBrain & development (Tokyo. )
- 1 March 2008
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.
- Y. Morinishi, K. Imai, S. Nonoyama
- Medicine, BiologyJornal de Pediatria
- 1 December 2009
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy
- M. Sakamoto, K. Iwama, N. Matsumoto
- Medicine, BiologyJournal of Human Genetics
- 10 October 2020
Although the patients studied here showed similar clinical features as previously described for PCH1D, relatively greater intellectual development and normal pontine structure were recognized, and the clinical consequences of biallelic EXOSC9 variants are expanded.
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease
- K. Ishigaki, T. Murakami, T. Nakanishi, Eri Oda, Takatoshi Sato, M. Ōsawa
- MedicineBrain & development (Tokyo. )
- 1 February 2012
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
- K. Ishigaki, D. Nicolle, D. Hantaı̈
- Biology, MedicineNeuromuscular Disorders
- 1 March 2003
National registry of patients with Fukuyama congenital muscular dystrophy in Japan
- K. Ishigaki, C. Ihara, M. Ōsawa
- MedicineNeuromuscular Disorders
- 1 October 2018
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy
- T. Murakami, K. Ishigaki, S. Shirakawa, H. Ikenaka, M. Sakauchi, M. Ōsawa
- Medicine, BiologyBrain & development (Tokyo. )
- 1 April 2012
Congenital fiber type disproportion myopathy caused by LMNA mutations
- S. Kajino, K. Ishihara, Y. Hayashi
- MedicineJournal of Neurological Sciences
- 15 May 2014
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