Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:NPJ genomic medicine 2019, Vol.4, p.18-18
Hauptverfasser: Yu, Mullin Ho-Chung, Tsang, Mandy Ho-Yin, Lai, Sophie, Ho, Matthew Sai-Pong, Tse, Donald M L, Willis, Brooke, Kwong, Anna Ka-Yee, Chou, Yen-Yin, Lin, Shuan-Pei, Quinzii, Catarina M, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Kuo, Pao-Lin, Chan, Victor Chi-Man, Tsoi, Cheung, Chong, Shuk-Ching, Rodenburg, Richard J T, Smeitink, Jan, Mak, Christopher Chun-Yu, Yeung, Kit-San, Fung, Jasmine Lee-Fong, Lam, Wendy, Hui, Joannie, Lee, Ni-Chung, Fung, Cheuk-Wing, Chung, Brian Hon-Yin
Format: Report
Sprache:eng
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 18
container_issue
container_start_page 18
container_title NPJ genomic medicine
container_volume 4
creator Yu, Mullin Ho-Chung
Tsang, Mandy Ho-Yin
Lai, Sophie
Ho, Matthew Sai-Pong
Tse, Donald M L
Willis, Brooke
Kwong, Anna Ka-Yee
Chou, Yen-Yin
Lin, Shuan-Pei
Quinzii, Catarina M
Hwu, Wuh-Liang
Chien, Yin-Hsiu
Kuo, Pao-Lin
Chan, Victor Chi-Man
Tsoi, Cheung
Chong, Shuk-Ching
Rodenburg, Richard J T
Smeitink, Jan
Mak, Christopher Chun-Yu
Yeung, Kit-San
Fung, Jasmine Lee-Fong
Lam, Wendy
Hui, Joannie
Lee, Ni-Chung
Fung, Cheuk-Wing
Chung, Brian Hon-Yin
description
doi_str_mv 10.1038/s41525-019-0091-x
format Report
fullrecord <record><control><sourceid>proquest</sourceid><recordid>TN_cdi_proquest_miscellaneous_2270010213</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2270010213</sourcerecordid><originalsourceid>FETCH-proquest_miscellaneous_22700102133</originalsourceid><addsrcrecordid>eNqVjrtOxDAQAC0kJE5wH0C3JY1h7SQXQnsCUYJEf7KcjeJT_MBrSxe-nhT8ANUUM8UIca_wUWHz_MSt6nQnUQ0ScVDyciV2GruD7Ie2vRF75jMiqkOnlB524vyRnTd5BRsp_Kye4FMhjDQ56yjYVfYvQJdkwkgjpJlCLGtyFjiRLbl62AwYmGLdigy-FlNcDOACcKxlphzgOLtATHfiejIL0_6Pt-Lh7fXr-C5Tjt-VuJy8Y0vLYgLFyiet-20UtWqaf6S_W5tSAA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>report</recordtype><pqid>2270010213</pqid></control><display><type>report</type><title>Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese</title><source>DOAJ Directory of Open Access Journals</source><source>Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals</source><source>PubMed Central Open Access</source><source>Springer Nature OA Free Journals</source><source>Nature Free</source><source>PubMed Central</source><creator>Yu, Mullin Ho-Chung ; Tsang, Mandy Ho-Yin ; Lai, Sophie ; Ho, Matthew Sai-Pong ; Tse, Donald M L ; Willis, Brooke ; Kwong, Anna Ka-Yee ; Chou, Yen-Yin ; Lin, Shuan-Pei ; Quinzii, Catarina M ; Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Kuo, Pao-Lin ; Chan, Victor Chi-Man ; Tsoi, Cheung ; Chong, Shuk-Ching ; Rodenburg, Richard J T ; Smeitink, Jan ; Mak, Christopher Chun-Yu ; Yeung, Kit-San ; Fung, Jasmine Lee-Fong ; Lam, Wendy ; Hui, Joannie ; Lee, Ni-Chung ; Fung, Cheuk-Wing ; Chung, Brian Hon-Yin</creator><creatorcontrib>Yu, Mullin Ho-Chung ; Tsang, Mandy Ho-Yin ; Lai, Sophie ; Ho, Matthew Sai-Pong ; Tse, Donald M L ; Willis, Brooke ; Kwong, Anna Ka-Yee ; Chou, Yen-Yin ; Lin, Shuan-Pei ; Quinzii, Catarina M ; Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Kuo, Pao-Lin ; Chan, Victor Chi-Man ; Tsoi, Cheung ; Chong, Shuk-Ching ; Rodenburg, Richard J T ; Smeitink, Jan ; Mak, Christopher Chun-Yu ; Yeung, Kit-San ; Fung, Jasmine Lee-Fong ; Lam, Wendy ; Hui, Joannie ; Lee, Ni-Chung ; Fung, Cheuk-Wing ; Chung, Brian Hon-Yin</creatorcontrib><identifier>EISSN: 2056-7944</identifier><identifier>DOI: 10.1038/s41525-019-0091-x</identifier><language>eng</language><ispartof>NPJ genomic medicine, 2019, Vol.4, p.18-18</ispartof><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>777,781,861,4476,27906</link.rule.ids></links><search><creatorcontrib>Yu, Mullin Ho-Chung</creatorcontrib><creatorcontrib>Tsang, Mandy Ho-Yin</creatorcontrib><creatorcontrib>Lai, Sophie</creatorcontrib><creatorcontrib>Ho, Matthew Sai-Pong</creatorcontrib><creatorcontrib>Tse, Donald M L</creatorcontrib><creatorcontrib>Willis, Brooke</creatorcontrib><creatorcontrib>Kwong, Anna Ka-Yee</creatorcontrib><creatorcontrib>Chou, Yen-Yin</creatorcontrib><creatorcontrib>Lin, Shuan-Pei</creatorcontrib><creatorcontrib>Quinzii, Catarina M</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Kuo, Pao-Lin</creatorcontrib><creatorcontrib>Chan, Victor Chi-Man</creatorcontrib><creatorcontrib>Tsoi, Cheung</creatorcontrib><creatorcontrib>Chong, Shuk-Ching</creatorcontrib><creatorcontrib>Rodenburg, Richard J T</creatorcontrib><creatorcontrib>Smeitink, Jan</creatorcontrib><creatorcontrib>Mak, Christopher Chun-Yu</creatorcontrib><creatorcontrib>Yeung, Kit-San</creatorcontrib><creatorcontrib>Fung, Jasmine Lee-Fong</creatorcontrib><creatorcontrib>Lam, Wendy</creatorcontrib><creatorcontrib>Hui, Joannie</creatorcontrib><creatorcontrib>Lee, Ni-Chung</creatorcontrib><creatorcontrib>Fung, Cheuk-Wing</creatorcontrib><creatorcontrib>Chung, Brian Hon-Yin</creatorcontrib><title>Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese</title><title>NPJ genomic medicine</title><issn>2056-7944</issn><fulltext>true</fulltext><rsrctype>report</rsrctype><creationdate>2019</creationdate><recordtype>report</recordtype><recordid>eNqVjrtOxDAQAC0kJE5wH0C3JY1h7SQXQnsCUYJEf7KcjeJT_MBrSxe-nhT8ANUUM8UIca_wUWHz_MSt6nQnUQ0ScVDyciV2GruD7Ie2vRF75jMiqkOnlB524vyRnTd5BRsp_Kye4FMhjDQ56yjYVfYvQJdkwkgjpJlCLGtyFjiRLbl62AwYmGLdigy-FlNcDOACcKxlphzgOLtATHfiejIL0_6Pt-Lh7fXr-C5Tjt-VuJy8Y0vLYgLFyiet-20UtWqaf6S_W5tSAA</recordid><startdate>20190101</startdate><enddate>20190101</enddate><creator>Yu, Mullin Ho-Chung</creator><creator>Tsang, Mandy Ho-Yin</creator><creator>Lai, Sophie</creator><creator>Ho, Matthew Sai-Pong</creator><creator>Tse, Donald M L</creator><creator>Willis, Brooke</creator><creator>Kwong, Anna Ka-Yee</creator><creator>Chou, Yen-Yin</creator><creator>Lin, Shuan-Pei</creator><creator>Quinzii, Catarina M</creator><creator>Hwu, Wuh-Liang</creator><creator>Chien, Yin-Hsiu</creator><creator>Kuo, Pao-Lin</creator><creator>Chan, Victor Chi-Man</creator><creator>Tsoi, Cheung</creator><creator>Chong, Shuk-Ching</creator><creator>Rodenburg, Richard J T</creator><creator>Smeitink, Jan</creator><creator>Mak, Christopher Chun-Yu</creator><creator>Yeung, Kit-San</creator><creator>Fung, Jasmine Lee-Fong</creator><creator>Lam, Wendy</creator><creator>Hui, Joannie</creator><creator>Lee, Ni-Chung</creator><creator>Fung, Cheuk-Wing</creator><creator>Chung, Brian Hon-Yin</creator><scope>7X8</scope></search><sort><creationdate>20190101</creationdate><title>Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese</title><author>Yu, Mullin Ho-Chung ; Tsang, Mandy Ho-Yin ; Lai, Sophie ; Ho, Matthew Sai-Pong ; Tse, Donald M L ; Willis, Brooke ; Kwong, Anna Ka-Yee ; Chou, Yen-Yin ; Lin, Shuan-Pei ; Quinzii, Catarina M ; Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Kuo, Pao-Lin ; Chan, Victor Chi-Man ; Tsoi, Cheung ; Chong, Shuk-Ching ; Rodenburg, Richard J T ; Smeitink, Jan ; Mak, Christopher Chun-Yu ; Yeung, Kit-San ; Fung, Jasmine Lee-Fong ; Lam, Wendy ; Hui, Joannie ; Lee, Ni-Chung ; Fung, Cheuk-Wing ; Chung, Brian Hon-Yin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-proquest_miscellaneous_22700102133</frbrgroupid><rsrctype>reports</rsrctype><prefilter>reports</prefilter><language>eng</language><creationdate>2019</creationdate><toplevel>online_resources</toplevel><creatorcontrib>Yu, Mullin Ho-Chung</creatorcontrib><creatorcontrib>Tsang, Mandy Ho-Yin</creatorcontrib><creatorcontrib>Lai, Sophie</creatorcontrib><creatorcontrib>Ho, Matthew Sai-Pong</creatorcontrib><creatorcontrib>Tse, Donald M L</creatorcontrib><creatorcontrib>Willis, Brooke</creatorcontrib><creatorcontrib>Kwong, Anna Ka-Yee</creatorcontrib><creatorcontrib>Chou, Yen-Yin</creatorcontrib><creatorcontrib>Lin, Shuan-Pei</creatorcontrib><creatorcontrib>Quinzii, Catarina M</creatorcontrib><creatorcontrib>Hwu, Wuh-Liang</creatorcontrib><creatorcontrib>Chien, Yin-Hsiu</creatorcontrib><creatorcontrib>Kuo, Pao-Lin</creatorcontrib><creatorcontrib>Chan, Victor Chi-Man</creatorcontrib><creatorcontrib>Tsoi, Cheung</creatorcontrib><creatorcontrib>Chong, Shuk-Ching</creatorcontrib><creatorcontrib>Rodenburg, Richard J T</creatorcontrib><creatorcontrib>Smeitink, Jan</creatorcontrib><creatorcontrib>Mak, Christopher Chun-Yu</creatorcontrib><creatorcontrib>Yeung, Kit-San</creatorcontrib><creatorcontrib>Fung, Jasmine Lee-Fong</creatorcontrib><creatorcontrib>Lam, Wendy</creatorcontrib><creatorcontrib>Hui, Joannie</creatorcontrib><creatorcontrib>Lee, Ni-Chung</creatorcontrib><creatorcontrib>Fung, Cheuk-Wing</creatorcontrib><creatorcontrib>Chung, Brian Hon-Yin</creatorcontrib><collection>MEDLINE - Academic</collection></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yu, Mullin Ho-Chung</au><au>Tsang, Mandy Ho-Yin</au><au>Lai, Sophie</au><au>Ho, Matthew Sai-Pong</au><au>Tse, Donald M L</au><au>Willis, Brooke</au><au>Kwong, Anna Ka-Yee</au><au>Chou, Yen-Yin</au><au>Lin, Shuan-Pei</au><au>Quinzii, Catarina M</au><au>Hwu, Wuh-Liang</au><au>Chien, Yin-Hsiu</au><au>Kuo, Pao-Lin</au><au>Chan, Victor Chi-Man</au><au>Tsoi, Cheung</au><au>Chong, Shuk-Ching</au><au>Rodenburg, Richard J T</au><au>Smeitink, Jan</au><au>Mak, Christopher Chun-Yu</au><au>Yeung, Kit-San</au><au>Fung, Jasmine Lee-Fong</au><au>Lam, Wendy</au><au>Hui, Joannie</au><au>Lee, Ni-Chung</au><au>Fung, Cheuk-Wing</au><au>Chung, Brian Hon-Yin</au><format>book</format><genre>unknown</genre><ristype>RPRT</ristype><atitle>Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese</atitle><jtitle>NPJ genomic medicine</jtitle><date>2019-01-01</date><risdate>2019</risdate><volume>4</volume><spage>18</spage><epage>18</epage><pages>18-18</pages><eissn>2056-7944</eissn><doi>10.1038/s41525-019-0091-x</doi></addata></record>
fulltext fulltext
identifier EISSN: 2056-7944
ispartof NPJ genomic medicine, 2019, Vol.4, p.18-18
issn 2056-7944
language eng
recordid cdi_proquest_miscellaneous_2270010213
source DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central Open Access; Springer Nature OA Free Journals; Nature Free; PubMed Central
title Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T19%3A52%3A45IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest&rft_val_fmt=info:ofi/fmt:kev:mtx:book&rft.genre=unknown&rft.atitle=Primary%20coenzyme%20Q10%20deficiency-7:%20expanded%20phenotypic%20spectrum%20and%20a%20founder%20mutation%20in%20southern%20Chinese&rft.jtitle=NPJ%20genomic%20medicine&rft.au=Yu,%20Mullin%20Ho-Chung&rft.date=2019-01-01&rft.volume=4&rft.spage=18&rft.epage=18&rft.pages=18-18&rft.eissn=2056-7944&rft_id=info:doi/10.1038/s41525-019-0091-x&rft_dat=%3Cproquest%3E2270010213%3C/proquest%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2270010213&rft_id=info:pmid/&rfr_iscdi=true