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Journal of Inherited Metabolic Disease
|
April 22, 2017
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Erika Ogawa, Masaru Shimura, Takuya Fushimi, et al.
Nucleic Acids Research
|
February 2, 2018
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease
Kana Asano, Takeo Suzuki, Ayaka Saito, et al.
Mitochondrion
|
December 21, 2021
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
Masaru Shimura, Takanori Onuki, Yohei Sugiyama, et al.
Journal of Bone and Mineral Metabolism
|
May 20, 2011
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
Hironori Nagasaka, Hirokazu Tsukahara, Tomozumi Takatani, et al.
Journal of Medical Genetics
|
April 13, 2023
Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testing
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, et al.
Journal of Inherited Metabolic Disease
|
January 23, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
Erika Ogawa, Takuya Fushimi, Minako Ogawa-Tominaga, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
November 26, 2013
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome
Taro Yamazaki, Kei Murayama, Alison G Compton, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2012
Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children
Hironori Nagasaka, Tohru Yorifuji, Robert H J Bandsma, et al.
The Journal of Pediatrics
|
December 19, 2017
Barth Syndrome: Different Approaches to Diagnosis
Atsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, et al.
Scientific Reports
|
February 12, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Nana Akiyama, Masaru Shimura, Taro Yamazaki, et al.
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of 15
Search research articles
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Showing results (101-110 of 144) with videos related to
Sort By:
Page
of 15
Journal of Inherited Metabolic Disease
|
April 22, 2017
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Erika Ogawa, Masaru Shimura, Takuya Fushimi, et al.
Nucleic Acids Research
|
February 2, 2018
Metabolic and chemical regulation of tRNA modification associated with taurine deficiency and human disease
Kana Asano, Takeo Suzuki, Ayaka Saito, et al.
Mitochondrion
|
December 21, 2021
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A
Masaru Shimura, Takanori Onuki, Yohei Sugiyama, et al.
Journal of Bone and Mineral Metabolism
|
May 20, 2011
Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening
Hironori Nagasaka, Hirokazu Tsukahara, Tomozumi Takatani, et al.
Journal of Medical Genetics
|
April 13, 2023
Strategic validation of variants of uncertain significance in <i>ECHS1</i> genetic testing
Yoshihito Kishita, Ayumu Sugiura, Takanori Onuki, et al.
Journal of Inherited Metabolic Disease
|
January 23, 2020
Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis
Erika Ogawa, Takuya Fushimi, Minako Ogawa-Tominaga, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
November 26, 2013
Molecular diagnosis of mitochondrial respiratory chain disorders in Japan: focusing on mitochondrial DNA depletion syndrome
Taro Yamazaki, Kei Murayama, Alison G Compton, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2012
Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children
Hironori Nagasaka, Tohru Yorifuji, Robert H J Bandsma, et al.
The Journal of Pediatrics
|
December 19, 2017
Barth Syndrome: Different Approaches to Diagnosis
Atsuko Imai-Okazaki, Yoshihito Kishita, Masakazu Kohda, et al.
Scientific Reports
|
February 12, 2021
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Nana Akiyama, Masaru Shimura, Taro Yamazaki, et al.
Page
of 15