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在“Elsevier电子期刊”中，命中：436条，耗时：0.0549732 秒

在所有数据库中总计命中：756条

1.Lysosomal acid lipase deficiency: Expanding differential diagnosis

作者：Vassili Valayannopoulos^a ; ^{vassilival.boston@gmail.com} ; Eugen Mengel^b ; Anais Brassier^a ; Gregory Grabowski^c

关键词：Lysosomal acid lipase deficiency ; Lysosomal storage disease ; Microvesicular steatosis ; Dyslipidemia ; Enzyme replacement therapy ; Hepatomegaly

刊名：Molecular Genetics and Metabolism

出版年：2017

2.Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders

作者：Nicoletta Plotegher¹ ; Michael R. Duchen¹ ; ^{m.duchen@ucl.ac.uk}

刊名：Trends in Molecular Medicine

出版年：2017

3.Antibodies that neutralize cellular uptake of elosulfase alfa are not associated with reduced efficacy or pharmacodynamic effect in individuals with Morquio A syndrome

作者：Andrew C. Melton ; ^{AMelton@bmrn.com} ; Russell K. Soon Jr. ; Troy Tompkins ; Brian Long ; Becky Schweighardt ; Yulan Qi ; Catherine Vitelli ; Anil Bagri ; Celeste Decker ; Charles A. O'Neill ; Stephen J. Zoog ; Lynne Jesaitis

关键词：TAb ; total antibody ; NAb ; neutralizing antibody ; LSD ; lysosomal storage diseases ; GAGs ; glycosaminoglycans ; ERTs ; enzyme replacement therapies ; rhGALNS ; recombinant human N-acetylgalactosamine-6-sulfatase ; 6MWT ; six minute walk test ; 3MSC ; three minute stair climb ; MVV ; maximum voluntary ventilation ; uKS ; urine keratan sulfate ; M6P ; mannose-6-phosphate ; CI-M6PR ; cation-independent mannose-6-phosphate receptor ; TQC ; titer quality control ; LQC ; low quality control ; HQC ; high quality control ; NPS

刊名：Journal of Immunological Methods

出版年：2017

4.Functional and Molecular Insights of Hydrogen Sulfide Signaling and Protein Sulfhydration

作者：Nilkantha Sen ^{nsen@augusta.edu}

关键词：H2S ; hydrogen sulfide ; CSE ; cystathionine gamma-lyase ; CBS ; cystathionine beta-synthase ; 3-MST ; 3-mercaptopyruvate sulfurtransferase ; KO ; knockout ; IR ; ischemia&ndash ; reperfusion ; PC ; post-conditioning ; EC ; endothelial cell ; NRF2 ; nuclear factor erythroid 2-related factor 2 ; HG ; hyperglycemia ; TG ; triglyceride ; Con A ; concanavalin A ; TNFα ; tumor necrosis factor-α ; LSD ; lysosomal storage disorder ; TBI ; traumatic brain injury ; TFAM ; mitochondrial transcription factor A ; BBB ; blood&ndash ; brain barr

刊名：Journal of Molecular Biology

出版年：2017

5.Patients' perspectives on newborn screening for later-onset lysosomal storage diseases

作者：Emily C. Lisi ; MS^a ; ¹ ; ^{lisi.emily@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Scott Gillespie ; MS^b ; ^{scott.gillespie@emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Dawn Laney ; MS^a ; ^{dawn.laney@emory.edu" class="auth_mail" title="E-mail the corresponding author} ; Nadia Ali ; PhD^a ; ^{nadia.ali@emory.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：LSDs ; lysosomal storage diseases ; FD ; Fabry disease ; GD ; Gaucher disease ; LOPD ; late onset Pompe disease ; MPS ; mucopolysaccharidosis ; NBSP ; newborn screening perception questionnaire ; BIPQ ; brief illness perception questionnaire

刊名：Molecular Genetics and Metabolism

出版年：2016

6.The lysosomal storage disease continuum with ageing-related neurodegenerative disease

作者：Emyr Lloyd-Evans ; ^{Lloyd-EvansE@cardiff.ac.uk} ; Luke J. Haslett

关键词：Lysosomal storage diseases ; Ageing ; Alzheimer&rsquo ; s disease ; Parkinson&rsquo ; s disease ; Lysosome

刊名：Ageing Research Reviews

出版年：2016

7.Astrocytes and lysosomal storage diseases

作者：K.V. Rama Rao ; T. Kielian ; ^{tkielian@unmc.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：AD ; Alzheimer&rsquo ; s disease ; DAMP ; danger-associated molecular pattern ; GBA ; glucocerebrosidase ; GFAP ; glial fibrillary acidic protein ; GLD ; globoid cell leukodystrophy ; INCL ; infantile neuronal ceroid lipofuscinosis ; JNCL ; juvenile neuronal ceroid lipofuscinosis ; LINCL ; late infantile neuronal ceroid lipofuscinosis ; LMP ; lysosomal membrane permeability ; LSD ; lysosomal storage disease ; MSD ; multiple sulfatase deficiency ; NCL ; neuronal ceroid lipofuscinosis ; NPC ; Niemann-Pick type C ; PD ; Parkin

刊名：Neuroscience

出版年：2016

8.Acid ceramidase and the treatment of ceramide diseases: The expanding role of enzyme replacement therapy

作者：Edward H. Schuchman ; ^{edward.schuchman@mssm.edu" class="auth_mail" title="E-mail the corresponding author}

关键词：Ceramide ; Sphingolipids ; Enzymes ; Lysosomal storage diseases ; Cell signaling

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

出版年：2016

9.Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases

作者：Anibh M. Das ; ^{das.anibh@mh-hannover.de" class="auth_mail" title="E-mail the corresponding author}

关键词：Enzyme replacement therapy ; Diet ; Inborn errors of metabolism ; Orphan diseases ; Pharmacotherapy ; Scavenger

刊名：Journal of Pharmacological and Toxicological Methods

出版年：2016

10.Limited responsiveness related to the minimal important difference of patient-reported outcomes in rare diseases

作者：Bradley C. Johnston^a ; ^b ; ^c ; ^{bradley.johnston@sickkids.ca} ; Patricia A. Miller^d ; Arnav Agarwal^e ; Sohail Mulla^f ; Rabia Khokhar^f ; Kyle De Oliveira^g ; Christine L. Hitchcock^a ; Behnam Sadeghirad^f ; ^h ; Mukarram Mohiuddinⁱ ; Nigar Sekercioglu^f ; Michal Seweryn^j ; Magdalena Koperny^k ; Malgorzata M. Bala^l ; Thomasin Adams-Webber^m ; Alicia Granadosⁿ ; Alaa Hamedⁿ ; Mark W. Crawford^b ; Ans T. van der Ploeg^o ; Gordon H. Guyatt^f

关键词：Responsiveness ; Patient-reported outcomes ; Minimal important difference ; Rare disease ; Lysosomal storage disease

刊名：Journal of Clinical Epidemiology

出版年：2016

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