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JIMD Reports
|
November 7, 2022
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts <i>BCKDHA</i>: A case report
Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, et al.
Brain & Development
|
January 4, 2011
Evaluation of valproate effects on acylcarnitine in epileptic children by LC-MS/MS
Yoko Nakajima, Tetsuya Ito, Yasuhiro Maeda, et al.
Molecular Genetics and Metabolism Reports
|
September 15, 2021
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders
Yoko Nakajima, Shuhei Osaka, Tadahaya Mizuno, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
February 12, 2017
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia
Kana Gotoh, Yoko Nakajima, Go Tajima, et al.
Clinical and Experimental Nephrology
|
June 13, 2019
Assessment of factors associated with mizoribine responsiveness in children with steroid-dependent nephrotic syndrome
Tomomi Kondoh, Yohei Ikezumi, Katsuyuki Yokoi, et al.
Brain & Development
|
August 25, 2016
A Japanese case of β-ureidopropionase deficiency with dysmorphic features
Tomoyuki Akiyama, Takashi Shibata, Harumi Yoshinaga, et al.
Molecular Genetics and Metabolism Reports
|
October 14, 2021
Current status of surviving patients with arginase 1 deficiency in Japan
Jun Kido, Shirou Matsumoto, Eiko Takeshita, et al.
JIMD Reports
|
January 13, 2023
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report
Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, et al.
Molecular Genetics & Genomic Medicine
|
August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.
The Tohoku Journal of Experimental Medicine
|
December 14, 2007
Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency
Kyoko Yokoi, Tetsuya Ito, Yasuhiro Maeda, et al.
Page
of 9
Search research articles
Search
Showing results (51-60 of 86) with videos related to
Sort By:
Page
of 9
JIMD Reports
|
November 7, 2022
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts <i>BCKDHA</i>: A case report
Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, et al.
Brain & Development
|
January 4, 2011
Evaluation of valproate effects on acylcarnitine in epileptic children by LC-MS/MS
Yoko Nakajima, Tetsuya Ito, Yasuhiro Maeda, et al.
Molecular Genetics and Metabolism Reports
|
September 15, 2021
Influence of food on pharmacokinetics and pharmacodynamics of 4-phenylbutyrate in patients with urea cycle disorders
Yoko Nakajima, Shuhei Osaka, Tadahaya Mizuno, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences
|
February 12, 2017
Determination of methylmalonyl coenzyme A by ultra high-performance liquid chromatography tandem mass spectrometry for measuring propionyl coenzyme A carboxylase activity in patients with propionic acidemia
Kana Gotoh, Yoko Nakajima, Go Tajima, et al.
Clinical and Experimental Nephrology
|
June 13, 2019
Assessment of factors associated with mizoribine responsiveness in children with steroid-dependent nephrotic syndrome
Tomomi Kondoh, Yohei Ikezumi, Katsuyuki Yokoi, et al.
Brain & Development
|
August 25, 2016
A Japanese case of β-ureidopropionase deficiency with dysmorphic features
Tomoyuki Akiyama, Takashi Shibata, Harumi Yoshinaga, et al.
Molecular Genetics and Metabolism Reports
|
October 14, 2021
Current status of surviving patients with arginase 1 deficiency in Japan
Jun Kido, Shirou Matsumoto, Eiko Takeshita, et al.
JIMD Reports
|
January 13, 2023
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report
Katsuyuki Yokoi, Yoko Nakajima, Yoshihisa Takahashi, et al.
Molecular Genetics & Genomic Medicine
|
August 5, 2020
A novel homozygous variant in MICOS13/QIL1 causes hepato-encephalopathy with mitochondrial DNA depletion syndrome
Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, et al.
The Tohoku Journal of Experimental Medicine
|
December 14, 2007
Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency
Kyoko Yokoi, Tetsuya Ito, Yasuhiro Maeda, et al.
Page
of 9