A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency

Joo Hee Seo; Young Mock Lee; Joon Soo Lee; Se Hoon Kim; Heung Dong Kim

doi:10.1016/j.braindev.2008.12.020

A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency

Brain and Development ◽

10.1016/j.braindev.2008.12.020 ◽

2010 ◽

Vol 32 (3) ◽

pp. 253-257 ◽

Cited By ~ 25

Author(s):

Joo Hee Seo ◽

Young Mock Lee ◽

Joon Soo Lee ◽

Se Hoon Kim ◽

Heung Dong Kim

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Ohtahara Syndrome ◽

Mitochondrial Respiratory

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Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency

Analytical Biochemistry ◽

10.1016/j.ab.2004.08.015 ◽

2004 ◽

Vol 335 (1) ◽

pp. 66-72 ◽

Cited By ~ 47

Author(s):

Ann Saada ◽

Maskit Bar-Meir ◽

Corinne Belaiche ◽

Chaya Miller ◽

Orly Elpeleg

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Enzymatic Assays ◽

Atp Production ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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A study of 133 Chinese children with mitochondrial respiratory chain complex I deficiency

Clinical Genetics ◽

10.1111/cge.12356 ◽

2014 ◽

Vol 87 (2) ◽

pp. 179-184 ◽

Cited By ~ 3

Author(s):

Y.-Y. Ma ◽

T.-F. Wu ◽

Y.-P. Liu ◽

Q. Wang ◽

X.-Y. Li ◽

...

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Chinese Children ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Clinical, biochemical, and genetic analysis of the mitochondrial respiratory chain complex I deficiency

Medicine ◽

10.1097/md.0000000000011606 ◽

2018 ◽

Vol 97 (32) ◽

pp. e11606 ◽

Cited By ~ 2

Author(s):

Yan-Yan Ma ◽

Xi-Yuan Li ◽

Zhi-Qin Li ◽

Ji-Qing Song ◽

Jing Hou ◽

...

Keyword(s):

Genetic Analysis ◽

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency

European Journal of Pediatrics ◽

10.1007/s00431-008-0753-7 ◽

2008 ◽

Vol 168 (3) ◽

pp. 297-302 ◽

Cited By ~ 17

Author(s):

Kei Murayama ◽

Hironori Nagasaka ◽

Tomoko Tsuruoka ◽

Yuko Omata ◽

Hiroshi Horie ◽

...

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Secretory Diarrhea ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Liver-specific mitochondrial respiratory chain complex I deficiency in fatal influenza encephalopathy

Brain and Development ◽

10.1016/j.braindev.2011.03.002 ◽

2012 ◽

Vol 34 (2) ◽

pp. 115-117 ◽

Cited By ~ 1

Author(s):

Chikako Arakawa ◽

Ayumi Endo ◽

Ryutaro Kohira ◽

Yukihiko Fujita ◽

Tatsuo Fuchigami ◽

...

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Landau-Kleffner Syndrome with Mitochondrial Respiratory Chain-Complex I Deficiency

Pediatric Neurology ◽

10.1016/j.pediatrneurol.2006.01.012 ◽

2006 ◽

Vol 35 (2) ◽

pp. 158-161 ◽

Cited By ~ 20

Author(s):

Hoon-Chul Kang ◽

Heung Dong Kim ◽

Young Mok Lee ◽

Si Hoon Han

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Mitochondrial Respiratory Chain Complex I Deficiency Causes Intractable Gastrointestinal Symptoms

Pediatrics & Health Research ◽

10.21767/2574-2817.100009 ◽

2018 ◽

Vol 02 (01) ◽

Author(s):

Hiroki Kuranobu ◽

Jun Murakami ◽

Naomi Kuranobu ◽

Ken Okamoto ◽

Kei Murayama ◽

...

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Gastrointestinal Symptoms ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Mitochondrial respiratory chain complex I deficiency causes intractable gastrointestinal symptoms

Pediatrics International ◽

10.1111/ped.13080 ◽

2016 ◽

Vol 58 (12) ◽

pp. 1337-1340

Author(s):

Hiroki Kuranobu ◽

Jun Murakami ◽

Naomi Kuranobu ◽

Ken Okamoto ◽

Kei Murayama ◽

...

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Gastrointestinal Symptoms ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Mitochondrial Respiratory

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Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Human Molecular Genetics ◽

10.1093/hmg/ddw245 ◽

2016 ◽

Vol 25 (18) ◽

pp. 4062-4079 ◽

Cited By ~ 26

Author(s):

Hana Hartmannová ◽

Lenka Piherová ◽

Kateřina Tauchmannová ◽

Kendrah Kidd ◽

Philip D. Acott ◽

...

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Fanconi Syndrome ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Complex I Deficiency ◽

Assembly Factor ◽

Complex I Assembly

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Characterization of Arabidopsis mutant with inactivated gene coding for Fe-S subunit of mitochondrial respiratory chain complex I

Russian Journal of Plant Physiology ◽

10.1134/s1021443710030118 ◽

2010 ◽

Vol 57 (3) ◽

pp. 392-400 ◽

Cited By ~ 5

Author(s):

V. I. Tarasenko ◽

E. Yu. Garnik ◽

Yu. M. Konstantinov

Keyword(s):

Respiratory Chain ◽

Complex I ◽

Chain Complex ◽

Mitochondrial Respiratory Chain ◽

Respiratory Chain Complex ◽

Mitochondrial Respiratory Chain Complex ◽

Gene Coding ◽

Arabidopsis Mutant ◽

Mitochondrial Respiratory

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