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在“Elsevier电子期刊”中，命中：20条，耗时：0.0310085 秒

在所有数据库中总计命中：55条

1.Intrafamilial variability in the clinical presentation of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)

作者：Can Ficicioglu^a ; Roberto Giugliani^b ; Paul Harmatz^c ; Nancy Mendelsohn^d ; ^e ; Virginie Jego^f ; Rossella Parini^g

刊名：Molecular Genetics and Metabolism

出版年：2017

2.The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

作者：Rossella Parini^a ; ^{rossella.parini@unimib.it" class="auth_mail" title="E-mail the corresponding author} ; Simon A. Jones^b ; ^{simon.jones@cmft.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Paul R. Harmatz^c ; ^{pharmatz@mail.cho.org" class="auth_mail" title="E-mail the corresponding author} ; Roberto Giugliani^d ; ^{rgiugliani@hcpa.edu.br" class="auth_mail" title="E-mail the corresponding author} ; Nancy J. Mendelsohn^e ; ^f ; ^{Nancy.Mendelsohn@childrensmn.org" class="auth_mail" title="E-mail the corresponding author}

关键词：Head circumference ; Lysosomal storage disease ; Mucopolysaccharidosis type II ; Weight ; Height ; Puberty

刊名：Molecular Genetics and Metabolism

出版年：2016

3.Patient and surgeon radiation exposure during spinal instrumentation using intraoperative computed tomography-based navigation

作者：Daniel Mendelsohn ; MD^a ; ^b ; Jason Strelzow ; MD^a ; ^b ; Nicolas Dea ; MD^a ; ^b ; Nancy L. Ford ; PhD^a ; ^b ; Juliet Batke ; MSc^a ; ^b ; Andrew Pennington ; MSc^a ; Kaiyun Yang ; MD^a ; Tamir Ailon ; MD^a ; Michael Boyd ; MD^a ; Marcel Dvorak ; MD^a ; ^b ; Brian Kwon ; MD ; PhD^a ; Scott Paquette ; MD^a ; Charles Fisher ; MD^a ; ^b ; John Street ; MD ; PhD^a ; ^b ; ^{John.Street@vch.ca" class="auth_mail" title="E-mail the corresponding author}

关键词：Complications ; CT based navigation ; Efficacy ; Pedicle screw ; Pedicle Screw Accuracy ; Radiation exposure ; Risk ; Safety ; Spine instrumentation ; Spine navigation

刊名：The Spine Journal

出版年：2016

4.Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing

作者：Hui Yu ; PhD^a ; ^&lowast ; ; Victor Wei Zhang ; MD ; PhD^b ; ^&lowast ; ; Asbjø ; rg Stray-Pedersen ; MD ; PhD^c ; ^d ; ^e ; ^f ; Imelda Celine Hanson ; MD^c ; ^d ; Lisa R. Forbes ; MD^c ; ^d ; M. Teresa de la Morena ; MD^g ; Ivan K. Chinn ; MD^c ; ^d ; Elizabeth Gorman ; PhD^a ; Nancy J. Mendelsohn ; MD^h ; Tamara Pozos ; MD ; PhDⁱ ; Wojciech Wiszniewski ; MD ; PhD^e ; Sarah K. Nicholas ; MD^c ; ^d ; Anne B. Yates ; MD^j ; Lindsey E. Moore ; DO^j ; Knut Erik Berge ; MD ; PhD^k ; Hanne Sorte ; MS^k ; Diana K. Bayer ; DO^l ; Daifulah ALZahrani ; MD^m ; Raif S. Geha ; MDⁿ ; Yanming Feng ; PhD^a ; Guoli Wang ; PhD^a ; Jordan S. Orange ; MD ; PhD^c ; ^d ; James R. Lupski ; MD ; PhD ; DSc (hon)^b ; ^e ; ^o ; Jing Wang ; MD^b ; Lee-Jun Wong ; PhD^b ; ^{ljwong@bcm.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Severe combined immunodeficiency ; severe combined immunodeficiency newborn screening ; next-generation sequencing ; molecular diagnostics

刊名：Journal of Allergy and Clinical Immunology

出版年：2016

5.Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

作者：Christian J. Hendriksz ; Joseph Muenzer ; Adeline V ; erver ; Jonathan M. Davis ; Barbara K. Burton ; Nancy J. Mendelsohn ; Nan Wang ; Luying Pan ; Arian Pano ; Sue Cammarata ; Ann J. Barbier

刊名：Molecular Genetics and Metabolism

出版年：February, 2014

6.Limited clinical impact of anti-idursulfase antibodies developed during long-term idursulfase enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) patients aged 5-35 years

作者：Paul Harmatz ; Roberto Giugliani ; Nancy J. Mendelsohn ; Ashok Vellodi ; Yune Kunes ; Kenneth Sciarappa ; Bonnie Bielefeld ; Ann J. Barbier ; Arian Pano ; Christian J. Hendriksz ; Suresh Vijayaraghavan

刊名：Molecular Genetics and Metabolism

出版年：February, 2014

7.The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

作者：Simon A. Jones^a ; ^{simon.jones@cmft.nhs.uk} ; Rossella Parini^b ; ^{rossella.parini@unimib.it} ; Paul Harmatz^c ; ^{pharmatz@mail.cho.org} ; Roberto Giugliani^d ; ^{rgiugliani@hcpa.ufrgs.br} ; Juanzhi Fang^e ; ^{jfang@shire.com} ; Nancy J. Mendelsohn^f ; ^g ; ^{Nancy.Mendelsohn@childrensmn.org} ; The HOS Natural History Working Group on behalf of the HOS Investigators

关键词：Enzyme replacement therapy ; Growth ; Lysosomal storage disease ; Mucopolysaccharidosis type II ; z-Score

刊名：Molecular Genetics and Metabolism

出版年：2013

8.The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

作者：Rossella Parini^a ; Simon Jones^b ; Paul Harmatz^c ; Roberto Giugliani^d ; Juanzhi Fang^e ; Nancy Mendelsohn^f

刊名：Molecular Genetics and Metabolism

出版年：2013

9.Cervical spine pathology in Hunter syndrome: Data from the Hunter Outcome Survey

作者：Paul Harmatz^a ; Christina Lampe^b ; Barbara Burton^c ; Nancy Mendelsohn^d ; ^e ; Juanzhi Fang^f

刊名：Molecular Genetics and Metabolism

出版年：2013

10.Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome): Data from the Hunter Outcome Survey (HOS)

作者：Can Ficicioglu^a ; Nancy J. Mendelsohn^b ; ^c ; Roberto Giugliani^d ; ^e ; Christina Lampe^f ; Juanzhi Fang^g

刊名：Molecular Genetics and Metabolism

出版年：2013

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