作者：Pramod K. Mistry^a ; ^{Pramod.mistry@yale.edu} ; Grisel Lopez^b ; ^{glopez@mail.nih.gov} ; Raphael Schiffmann^c ; ^{Raphael.Schiffmann@BSWHealth.org} ; Norman W. Barton^d ; ^{nbarton@shire.com} ; Neal J. Weinreb^e ; ^{boneal@winning.com} ; Ellen Sidransky^b ; ^{sidranse@mail.nih.gov}

关键词：ERT ; enzyme replacement therapy ; SRT ; substrate reduction therapy ; iPSC ; induced pluripotent stem cells ; GBA1 ; the glucocerebrosidase gene ; CBE ; conduritol β-epoxide ; HSP ; heat shock protein ; ER ; endoplasmic reticulum ; HDAC ; histone deacetylase ; NIH ; National Institutes of Health ; FDA ; Food and Drug Administration

刊名：Molecular Genetics and Metabolism

出版年：2017

作者：Ning XuAuthor Vitae ; Jialei BaiAuthor Vitae ; Yuan PengAuthor Vitae ; Zhiwei QieAuthor Vitae ; Zengshan LiuAuthor Vitae ; Hongzhi TangAuthor Vitae ; Chao LiuAuthor Vitae ; Zhixian Gao ; ^{gaozhx@163.com}Author Vitae ; Baoan Ning ; ^{ningba@163.com}Author Vitae

关键词：Diazepam ; Beverages ; Immunoassay ; Enzyme thermistor (ET) ; Pretreatment-free

刊名：Sensors and Actuators B: Chemical

出版年：2017

作者：Anthony H. Futerman^a ; ^{tony.futerman@weizmann.ac.il} ; Frances M. Platt^b

关键词：Gaucher disease ; Glucosylceramide ; Enzyme replacement therapy ; Substrate reduction therapy

刊名：Molecular Genetics and Metabolism

出版年：2017

作者：Matthew Swan ; MD^a ; ^b ; ¹ ; ^{matthew.c.swan@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; ^{matswan@montefiore.org" class="auth_mail" title="E-mail the corresponding author} ; Nancy Doan^a ; ² ; Robert A. Ortega ; MS^a ; ² ; Matthew Barrett ; MD^c ; ³ ; ^{MJB5T@hscmail.mcc.virginia.edu" class="auth_mail" title="E-mail the corresponding author} ; William Nichols ; PhD^d ; ⁴ ; ^{bill.nichols@cchmc.org" class="auth_mail" title="E-mail the corresponding author} ; Laurie Ozelius ; PhD^e ; ⁵ ; ^{lozelius@partners.org" class="auth_mail" title="E-mail the corresponding author} ; Jeannie Soto-Valencia ; BA^a ; ² ; Sarah Boschung ; BSN^a ; ² ; Andres Deik ; MD^a ; ^{Andres.DeikAcostaMadiedo@uphs.upenn.edu" class="auth_mail" title="E-mail the corresponding author} ; Harini Sarva ; MD^a ; ^{sarvaharini@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Jose Cabassa ; MD^a ; ^{jose.c.cabassa@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Brooke Johannes ; MSc ; MS ; CGC^a ; ² ; Deborah Raymond ; MS ; CGC^a ; ² ; Karen Marder ; MD ; MPH^f ; ⁶ ; ^{ksm1@columbia.edu" class="auth_mail" title="E-mail the corresponding author} ; Nir Giladi ; MD^g ; ^{nirg@tlvmc.gov.il" class="auth_mail" title="E-mail the corresponding author} ; Joan Miravite ; FNP^a ; ² ; William Severt ; MD ; PhD^a ; ² ; Rivka Sachdev ; MD^a ; ² ; Vicki Shanker ; MD^a ; ² ; Susan Bressman ; MD^a ; ² ; Rachel Saunders-Pullman ; MD ; MPH^a ; ² ; ^{RSaunder@chpnet.org" class="auth_mail" title="E-mail the corresponding author}

关键词：Parkinson disease ; Glucocerebrosidase ; GBA1 ; Depression ; Anxiety

刊名：Journal of the Neurological Sciences

出版年：2016

作者：Alon Grossman^a ; ^b ; ^{alonanat75@gmail.com} ; Anat Gafter-Gvili^b ; ^c ; ^{anatga2@clalit.org.il} ; Hemda Schmilovitz-Weiss^b ; ^d ; ^{hemdaw1@netvision.net.il} ; Nira Koren-Morag^b ; ^e ; ^{nira.morag@gmail.com} ; Yichayaou Beloosesky^b ; ^f ; ^{beloy@clalit.org.il} ; Avraham Weiss^b ; ^f ; ^{avrahamw@clalit.org.il}

关键词：HgbA1C ; Anemia ; Hemoglobin ; Elderly

刊名：European Journal of Internal Medicine

出版年：2016

作者：Zheng Cao ; Ping Wang ; ^{pwang@houstonmethodist.org" class="auth_mail" title="E-mail the corresponding author}

关键词：HgbA1c ; hemoglobin A1c ; NHANES ; National health and nutritional examination survey ; NGSP ; National glycohemoglobin standardization program ; IFCC ; International federation of clinical chemistry ; DCCT ; Diabetes control and complications trial ; HPLC ; high performance liquid chromatography ; QC ; quality control ; HMH ; Houston Methodist Hospital

刊名：Practical Laboratory Medicine

出版年：2016

作者：Litsa Karageorgos^a ; ^{litsa.karageorgos@sahmri.com" class="auth_mail" title="E-mail the corresponding author} ; Leanne Hein^a ; Tina Rozaklis^a ; Melissa Adams^a ; Stephen Duplock^a ; Marten Snel^a ; Kim Hemsley^a ; Tim Kuchel^b ; Nicholas Smith^c ; ^d ; John J. Hopwood^a

关键词：BMP ; bis(monoacylglycero)phosphate ; Cer ; ceramide ; DHC ; dihexosylceramide ; GalCer ; galactosylceramide ; GCase ; β-glucocerebrosidase ; GBA1 ; β-glucocerebrosidase gene ; GlcCer ; glucosylceramide ; GlcSph ; glucosylsphingosine ; PC ; phosphatidylcholine ; PE ; phosphatidylethanolamine ; PG ; phosphatidylglycerol ; PI ; phosphatidylinositol ; SM ; sphingomyelin ; SEM ; standard error of the mean ; THC ; trihexosylceramide

刊名：Neurobiology of Disease

出版年：2016

作者：Bethan S. Kilpatrick^a ; ^{bethan.kilpatrick.10@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Joana Magalhaes^b ; Michelle S. Beavan^b ; Alisdair McNeill^b ; Matthew E. Gegg^b ; Michael W.J. Cleeter^b ; Duncan Bloor-Young^c ; Grant C. Churchill^c ; Michael R. Duchen^a ; Anthony H. Schapira^b ; Sandip Patel^a ; ^{patel.s@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author}

关键词：ER ; endoplasmic reticulum ; cADPR ; cyclic ADP-ribose ; SERCA ; sarco-endoplasmic reticulum Ca2+ ATPase ; PD ; Parkinson disease ; GD ; Gaucher disease ; ASX ; asymptomatic ; CBE ; conduritol B epoxide ; GPN ; glycyl-l-phenylalanine 2-naphthylamide ; LAMP ; lysosome associated membrane protein ; LC3 ; microtubule-associated protein 1A/1B-light chain 3

刊名：Cell Calcium

出版年：2016

作者：Giulia Ambrosi ; Cristina Ghezzi ; Roberta Zangaglia ; Giovanna Levandis ; Claudio Pacchetti ; Fabio Blandini

刊名：Parkinsonism & Related Disorders

出版年：2016

作者：Giulia Ambrosi ; Cristina Ghezzi ; Roberta Zangaglia ; Giovanna Levandis ; Claudio Pacchetti ; Fabio Blandini

刊名：Parkinsonism & Related Disorders

出版年：2016