Yuichi Mushimoto

发表

A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5

T. Urakami, S. Sugihara, T. Kikuchi, 2021, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Fully Automated Quantitative Measurement of Serum Organic Acids via LC-MS/MS for the Diagnosis of Organic Acidemias: Establishment of an Automation System and a Proof-of-Concept Validation

D. Kang, Daiki Setoyama, Taeko Hotta, 2021, Diagnostics.

Brain-sparing cord blood transplantation for the borderline stage of adrenoleukodystrophy

A. Hiwatashi, Y. Sakai, S. Ohga, 2021, Molecular genetics and metabolism reports.

Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay

T. Taketani, S. Fukuda, J. Purevsuren, 2017, Brain and Development.

Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.

T. Fukao, S. Fukuda, J. Purevsuren, 2012, Molecular genetics and metabolism.

Effect of heat stress and bezafibrate on mitochondrial β-oxidation: Comparison between cultured cells from normal and mitochondrial fatty acid oxidation disorder children using in vitro probe acylcarnitine profiling assay

S. Fukuda, J. Purevsuren, Y. Hasegawa, 2010, Brain and Development.

Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.

S. Fukuda, J. Purevsuren, Y. Hasegawa, 2010, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

A Boy With Necrotizing Fasciitis Diagnosed at an Early Stage

N. Tanaka, Y. Uchio, S. Yamaguchi, 2013 .

Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation

Yoshiro Saito, Hironori Kobayashi, T. Hamajima, 2012 .

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency.

T. Fukao, S. Fukuda, J. Purevsuren, 2009, Molecular genetics and metabolism.

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype

T. Taketani, Y. Hasegawa, Hironori Kobayashi, 2022, Molecular genetics and metabolism reports.

Novel compound heterozygous mutations in the SBP2 gene: characteristic clinical manifestations and the implications of GH and triiodothyronine in longitudinal bone growth and maturation.

Yoshiro Saito, Hironori Kobayashi, T. Hamajima, 2012, European journal of endocrinology.

Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

T. Taketani, T. Fukao, S. Fukuda, 2012, Molecular genetics and metabolism.

In vitro probe acylcarnitine profiling assay using cultured fibroblasts and electrospray ionization tandem mass spectrometry predicts severity of patients with glutaric aciduria type 2.

S. Fukuda, J. Purevsuren, Y. Hasegawa, 2010, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

BCS1L mutations produce Fanconi syndrome with developmental disability

K. Yoshiura, K. Kosaki, K. Murayama, 2021, Journal of Human Genetics.

Adenovirus serotype 31 infection in a newborn girl and review of the literature

S. Fukuda, S. Yamaguchi, K. Yasuda, 2011, Pediatrics International.

Guidelines for Newborn Screening of Congenital Hypothyroidism (2021 Revision)

Hironori Kobayashi, T. Tajima, K. Nagasaki, 2022, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).

T. Taketani, S. Fukuda, J. Purevsuren, 2009, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

S. Hirose, N. Sakai, Jun Kido, 2021, Molecular genetics and metabolism reports.

A case of an infant with congenital combined pituitary hormone deficiency and normalized liver histology of infantile cholestasis after hormone replacement therapy

T. Taketani, R. Maruyama, N. Ishikawa, 2017, Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology.

The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S

Y. Sakai, S. Ohga, M. Takahashi, 2020, Molecular genetics & genomic medicine.

Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby

T. Taketani, Y. Matsubara, S. Fukuda, 2019, JIMD reports.

A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.

T. Fukao, S. Fukuda, J. Purevsuren, 2009, Molecular genetics and metabolism.

Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.

T. Taketani, S. Fukuda, J. Purevsuren, 2011, Molecular genetics and metabolism.

Clinical and genetic aspects of hypophosphatasia in Japanese patients

T. Taketani, S. Fukuda, Hironori Kobayashi, 2013, Archives of Disease in Childhood.

Acute Myositis Associated with Concurrent Infection of Rotavirus and Norovirus in a 2-Year-Old Girl

S. Fukuda, S. Yamaguchi, Kei Yamamoto, 2015, Pediatric reports.

[Clinical study of organic acidemias and fatty acid oxidation disorders detected in adults].

J. Purevsuren, Y. Hasegawa, Hironori Kobayashi, 2013, Rinsho shinkeigaku = Clinical neurology.

Anesthesia management in living-donor liver transplantation in a patient with carbamoyl phosphate synthetase deficiency: a case report

K. Yamaura, T. Matsuura, Y. Karashima, 2022, JA Clinical Reports.