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European Journal of Pediatrics
|
June 19, 2008
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency
Kei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, et al.
The Tohoku Journal of Experimental Medicine
|
December 3, 2025
Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome
Yurika Numata-Uematsu, Moriei Shibuya, Yu Katata, et al.
Journal of Atherosclerosis and Thrombosis
|
January 22, 2023
Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022
Mariko Harada-Shiba, Akira Ohtake, Daisuke Sugiyama, et al.
Molecular Genetics & Genomic Medicine
|
January 19, 2020
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
Kenji Shimizu, Daiju Oba, Ryusuke Nambu, et al.
Genes
|
November 13, 2020
Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSL
Nurun Nahar Borna, Yoshihito Kishita, Norio Sakai, et al.
Scientific Reports
|
January 11, 2018
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Sze Chern Lim, Makiko Tajika, Masaru Shimura, et al.
Cureus
|
November 3, 2025
A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection
Ryusei Kubo, Yoichi Iwamoto, Sayaka Ajihara, et al.
Molecular Genetics and Metabolism Reports
|
March 24, 2025
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation
Kazuhiro Yokota, Akira Ohtake, Taro Yamazaki, et al.
Endocrine
|
October 3, 2014
Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation
Yoko Izumi, Ikuma Musha, Erina Suzuki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
June 7, 2011
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene
Osamu Sakamoto, Toshihiro Ohura, Kei Murayama, et al.
Page
of 17
Search research articles
Search
Showing results (41-50 of 162) with videos related to
Sort By:
Page
of 17
European Journal of Pediatrics
|
June 19, 2008
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency
Kei Murayama, Hironori Nagasaka, Tomoko Tsuruoka, et al.
The Tohoku Journal of Experimental Medicine
|
December 3, 2025
Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome
Yurika Numata-Uematsu, Moriei Shibuya, Yu Katata, et al.
Journal of Atherosclerosis and Thrombosis
|
January 22, 2023
Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022
Mariko Harada-Shiba, Akira Ohtake, Daisuke Sugiyama, et al.
Molecular Genetics & Genomic Medicine
|
January 19, 2020
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation
Kenji Shimizu, Daiju Oba, Ryusuke Nambu, et al.
Genes
|
November 13, 2020
Leigh Syndrome Due to <i>NDUFV1</i> Mutations Initially Presenting as LBSL
Nurun Nahar Borna, Yoshihito Kishita, Norio Sakai, et al.
Scientific Reports
|
January 11, 2018
Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function
Sze Chern Lim, Makiko Tajika, Masaru Shimura, et al.
Cureus
|
November 3, 2025
A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection
Ryusei Kubo, Yoichi Iwamoto, Sayaka Ajihara, et al.
Molecular Genetics and Metabolism Reports
|
March 24, 2025
Carbamoyl phosphate synthetase 1 deficiency manifested in an adult treated with prednisone for polymyositis, and cured by live-donor liver transplantation
Kazuhiro Yokota, Akira Ohtake, Taro Yamazaki, et al.
Endocrine
|
October 3, 2014
Hypogonadotropic hypogonadism in a female patient previously diagnosed as having waardenburg syndrome due to a sox10 mutation
Yoko Izumi, Ikuma Musha, Erina Suzuki, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
June 7, 2011
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene
Osamu Sakamoto, Toshihiro Ohura, Kei Murayama, et al.
Page
of 17