ALG9-CDG: New clinical case and review of the literature

Kellie Davis; Duncan Webster; Chris Smith; Sheryl Jackson; David Sinasac; Lorne Seargeant; Xing Chang Wei; Patrick Ferreira; Julian Midgley; Yolanda Foster; Xueli Li; Miao He; Walla Al-Hertani

doi:10.1016/j.ymgmr.2017.08.004

ALG9-CDG: New clinical case and review of the literature

Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani

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科研成果: 期刊稿件 › 文章 › 同行评审

21 引用（Scopus）

源语言	英语
页（从-至）	55-63
页数	9
期刊	Molecular Genetics and Metabolism Reports
卷	13
DOI	https://doi.org/10.1016/j.ymgmr.2017.08.004
出版状态	已出版 - 12月 2017

!!!ASJC Scopus Subject Areas

遗传学
内分泌学
分子生物学

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10.1016/j.ymgmr.2017.08.004

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title = "ALG9-CDG: New clinical case and review of the literature",

keywords = "ALG9, ALG9-CDG, CDG-IL, Congenital disorders of glycosylation, Lethal skeletal dysplasia, Transferrin isoelectrofocusing type 1 pattern",

author = "Kellie Davis and Duncan Webster and Chris Smith and Sheryl Jackson and David Sinasac and Lorne Seargeant and Wei, {Xing Chang} and Patrick Ferreira and Julian Midgley and Yolanda Foster and Xueli Li and Miao He and Walla Al-Hertani",

note = "Publisher Copyright: {\textcopyright} 2017 The Authors",

year = "2017",

month = dec,

doi = "10.1016/j.ymgmr.2017.08.004",

language = "English",

volume = "13",

pages = "55--63",

journal = "Molecular Genetics and Metabolism Reports",

issn = "2214-4269",

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TY - JOUR

T1 - ALG9-CDG

T2 - New clinical case and review of the literature

AU - Davis, Kellie

AU - Webster, Duncan

AU - Smith, Chris

AU - Jackson, Sheryl

AU - Sinasac, David

AU - Seargeant, Lorne

AU - Wei, Xing Chang

AU - Ferreira, Patrick

AU - Midgley, Julian

AU - Foster, Yolanda

AU - Li, Xueli

AU - He, Miao

AU - Al-Hertani, Walla

PY - 2017/12

Y1 - 2017/12

KW - ALG9

KW - ALG9-CDG

KW - CDG-IL

KW - Congenital disorders of glycosylation

KW - Lethal skeletal dysplasia

KW - Transferrin isoelectrofocusing type 1 pattern

UR - http://www.scopus.com/inward/record.url?scp=85028819642&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85028819642&partnerID=8YFLogxK

U2 - 10.1016/j.ymgmr.2017.08.004

DO - 10.1016/j.ymgmr.2017.08.004

M3 - Article

AN - SCOPUS:85028819642

SN - 2214-4269

VL - 13

SP - 55

EP - 63

JO - Molecular Genetics and Metabolism Reports

JF - Molecular Genetics and Metabolism Reports

ER -

ALG9-CDG: New clinical case and review of the literature

!!!ASJC Scopus Subject Areas

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