搜索页_+Zellweger+spectrum+disorder

设为首页

收藏本站

网站地图 | English | 公务邮箱

远程访问

NSTL服务站

外文资源

Elsevier电子期刊(20)

在“Elsevier电子期刊”中，命中：20条，耗时：0.0359814 秒

在所有数据库中总计命中：35条

1.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

关键词：AAV ; adeno-associated virus ; AED ; anti-epileptic drug(s) ; DHA ; docosahexaenoic acid ; DHCA ; dihydroxycholestanoic acid ; ERG ; electroretinogram ; G-tube ; gastrostomy tube ; IRD ; infantile Refsum disease ; LC-MS/MS ; liquid chromatography/tandem mass spectrometry ; NALD ; neonatal adrenoleukodystrophy ; OCT ; optical coherence tomography ; PBD ; peroxisome biogenesis disorder ; PBD-ZSD ; peroxisome biogenesis disorder-Zellweger spectrum disorder ; THCA ; trihydroxycholestanoic acid ; VLCFA ; very long chain fatty

刊名：Molecular Genetics and Metabolism

出版年：2016

2.Low bone mineral density is a common feature of Zellweger spectrum disorders

作者：Eric T. Rush^a ; ^b ; ^c ; ^{erush@unmc.edu" class="auth_mail" title="E-mail the corresponding author} ; Jennifer L. Goodwin^a ; Nancy E. Braverman^d ; William B. Rizzo^a ; ^c

关键词：Peroxisomal biogenesis disorder ; Zellweger spectrum disorder ; Bone mineral density ; Bone densitometry ; PPAR-gamma ; Pathologic fracture ; Bisphosphonate

刊名：Molecular Genetics and Metabolism

出版年：2016

3.Absence of biochemical evidence at an early age delays diagnosis in a patient with a clinically severe peroxisomal biogenesis disorder

作者：Natalia Lü ; sebrink^a ; ^{Natalia.Luesebrink@kgu.de" class="auth_mail" title="E-mail the corresponding author} ; Luciana Porto^b ; Hans R. Waterham^c ; Sacha Ferdinandusse^c ; Hendrik Rosewich^d ; Gerd Kurlemann^e ; Matthias Kieslich^a

关键词：Peroxisomal biogenesis disorder ; Zellweger spectrum disorder ; PEX6 ; Polimicrogyria ; VLCFA

刊名：European Journal of Paediatric Neurology

出版年：2016

4.Peroxisomes in brain development and function

作者：Johannes Berger ; ^{johannes.berger@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author} ; Fabian Dorninger ^{fabian.dorninger@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author} ; Sonja Forss-Petter ^{sonja.forss-petter@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author} ; Markus Kunze ^{markus.kunze@meduniwien.ac.at" class="auth_mail" title="E-mail the corresponding author}

关键词：Lipid metabolism ; Plasmalogen ; Zellweger spectrum disorder ; D-bifunctional protein deficiency ; X-linked adrenoleukodystrophy ; Rhizomelic chondrodysplasia punctata

刊名：Biochimica et Biophysica Acta (BBA)-Molecular Cell Research

出版年：2016

5.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

作者：Meredith J. Ventura^a ; Dianna Wheaton^b ; ^c ; Mingchu Xu^d ; David Birch^b ; ^c ; Sara J. Bowne^e ; Lori S. Sullivan^e ; Stephen P. Daiger^e ; Annette E. Whitney^f ; Richard O. Jones^g ; Ann B. Moser^g ; Rui Chen^d ; Michael F. Wangler^d ; ^h ; ^{michael.wangler@bcm.edu}

关键词：PEX1 p.G843D ; Zellweger syndrome spectrum ; Peroxisomal biogenesis disorders ; Usher syndrome

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders

作者：Eric T. Rush^a ; ^b ; ^c ; ^{erush@unmc.edu" class="auth_mail" title="E-mail the corresponding author} ; Jennifer L. Goodwin^a ; Nancy E. Braverman^d ; William B. Rizzo^a ; ^c

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

7.P86 - 2820: Clinical and biochemical profile of peroxisomal disorders in infancy and childhood

作者：L. Mansour ; E. Fateen ; M. Rashed ; H. Marzouk ; D. Hesham ; L. Tarek

刊名：European Journal of Paediatric Neurology

出版年：2015

8.The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder

作者：Shandi Hiebler^a ; ¹ ; Tomohiro Masuda^b ; ¹ ; Joseph G. Hacia^c ; Ann B. Moser^a ; ^d ; Phyllis L. Faust^e ; Anita Liu^a ; Nivedita Chowdhury^a ; Ning Huang^c ; Amanda Lauer^f ; Jean Bennett^g ; Paul A. Watkins^a ; ^d ; Donald J. Zack^b ; ^h ; ⁱ ; ^j ; ^k ; Nancy E. Braverman^l ; ^m ; Gerald V. Raymond^a ; ^d ; ² ; Steven J. Steinberg^a ; ^d ; ^h ; ^{ssteinb8@jhmi.edu" class="auth_mail}

关键词：ABR ; auditory brainstem response ; C26 ; 0-LPC ; C26 ; 0-lysophosphatidylethanolamine ; DHCA ; dihydroxycholestanoic acid ; DMSO ; dimethylsulfoxide ; ERG ; electroretinogram ; FBS-EMEM ; fetal bovine serum-Eagle's minimum essential media ; h ; hour ; IRD ; infantile Refsum disease ; LC&ndash ; MS/MS ; liquid chromatography tandem mass spectrometry ; NALD ; neonatal adrenoleukodystrophy ; PE ; phosphatidylethanolamine ; PEX ; peroxins ; PEX1-G843D ; human PEX1 mutation c.2528G> ; A (p. G843D) ; Pex1-G844D ; murine Pex1 mutatio

刊名：Molecular Genetics and Metabolism

出版年：April, 2014

9.Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders

作者：Bwee Tien Poll-The ; Jutta G?rtner

关键词：Peroxisomal disorder ; Zellweger spectrum disorder ; Peroxisomal acyl-CoA oxidase deficiency ; D-bifunctional protein deficiency ; X-linked adrenoleukodystrophy ; Rhizomelic chondrodysplasia punctata

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：2012

10.Genetics and molecular basis of human peroxisome biogenesis disorders

作者：Hans R. Waterham ; Merel S. Ebberink

关键词：Peroxisome biogenesis disorder ; Zellweger syndrome spectrum ; PEX genes ; Peroxisome assembly ; Genetic testing

刊名：Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease

出版年：2012

按检索点细分(20)

题名(5)

关键词(9)

文摘(11)

按出版年细分(20)

2027年及以后(1)

2016年(6)

2015年(1)

2013年(2)

2012年(3)

2011年(1)

2007年(2)

2006年(2)

2004年(2)

地址：北京市海淀区学院路29号邮编：100083

电话：办公室：(+86 10)66554848；文献借阅、咨询服务、科技查新：66554700