Concepedia

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

Toshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, Nobuki Kuwayama, Mikiko Morita, Tomohiro Hori, Yuka Aoyama, Rajaram Venkatesan, Rik K. Wierenga, Yohsuke Moriyama,

Journal of Human Genetics · 2014 · 29 citations · 25 references

DOI

Concepts

References

25

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

Hermann Schägger, Gebhard von Jagow · Analytical Biochemistry · 1991 · 2.2K citations

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RNase P without RNA: Identification and Functional Reconstitution of the Human Mitochondrial tRNA Processing Enzyme

Johann Holzmann, Peter Frank, Esther Löffler et al. · Cell · 2008 · 611 citations · Full text

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Diagnostic criteria for respiratory chain disorders in adults and children

François P. Bernier, Avihu Boneh, Xenia Dennett et al. · Neurology · 2002 · 572 citations

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The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative

Bengt Persson, Yvonne Kallberg, James E. Bray et al. · Chemico-Biological Interactions · 2008 · 394 citations · Full text

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Respiratory chain complex I deficiency

Denise M. Kirby, Megan Crawford, Maureen Cleary et al. · Neurology · 1999 · 267 citations

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