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在“Elsevier电子期刊”中，命中：344条，耗时：0.1538951 秒

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1.Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib

作者：Rudolf Letkemann^a ; ^{r.letkemann@uni-muenster.de} ; Helmut Wittkowski^b ; ^{helmut.wittkowski@ukmuenster.de} ; Aristotelis Antonopoulos^c ; ^{a.antonopoulos@imperial.ac.uk} ; Teodor Podskabi^d ; ^{metabolic-genetic-disease@gmx.de} ; Stuart M. Haslam^c ; ^{s.haslam@imperial.ac.uk} ; Dirk Fö ; ll^b ; ^{dfoell@uni-muenster.de} ; Anne Dell^c ; ^{a.dell@imperial.ac.uk} ; Thorsten Marquardt^a ; ^{marquat@uni-muenster.de}

关键词：CHAPS ; 3-[(3-cholamidopropyl)dimethylammonio]-1-propanesulfonate ; CDG ; congenital disorder of glycosylation ; DHR ; dihydrorhodamine ; E. coli ; Escherichia coli ; EDTA ; ethylenediaminetetraacetic acid ; FICT ; fluorescein isothiocyanate ; fMLP ; formyl-methionyl-leucyl-phenylalanine ; G1P ; glucose 1-phosphate ; G6P ; glucose 6-phosphate ; G6PC ; glucose 6-phosphate catabolic ; G6PT ; glucose 6-phosphate transporter ; GCSF ; granulocyte-colony stimulating factor ; GSD-Ib ; glycogen storage disease type Ib ; HMPS ; he

刊名：International Immunopharmacology

出版年：2017

2.Quantification of muscle pathology in infantile Pompe disease

作者：Anne Schä ; nzer^a ; ^{anne.schaenzer@patho.med.uni-giessen.de} ; Ann-Kathrin Kaiser^a ; Christian Mü ; hlfeld^b ; Martin Kulessa^a ; Werner Paulus^c ; Harald von Pein^d ; Marianne Rohrbach^e ; Lara Viergutz^a ; Eugen Mengel^f ; Thorsten Marquardt^g ; Bernd Neubauer^h ; Till Acker^a ; ¹ ; Andreas Hahn^h ; ¹

关键词：Pompe disease ; Glycogen storage disease type II ; Enzyme replacement therapy ; Lysosomal storage disease ; Acid maltase deficiency ; Autophagy

刊名：Neuromuscular Disorders

出版年：2017

3.Glycogen storage disease type Ib neutrophils exhibit impaired cell adhesion and migration

作者：Goo-Young Kim^a ; Young Mok Lee^a ; Joon Hyun Kwon^a ; Hyun Sik Jun^b ; ^{toddjun@korea.ac.kr} ; Janice Chou^a ; ^{chouja@mail.nih.gov}

关键词：Glucose-6-phosphate transporter ; CD11a ; CD11b ; Neutrophil adhesion ; Migration

刊名：Biochemical and Biophysical Research Communications

出版年：2017

4.Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III

作者：Valé ; rie Decostre^a ; ^{v.decostre@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author} ; Pascal Laforê ; t^b ; ^c ; Aleksandra Nadaj-Pakleza^d ; Marie De Antonio^e ; Sylvain Leveugle^e ; Gwenn Ollivier^a ; Auré ; lie Canal^a ; Kahina Kachetel^b ; Franç ; ois Petit^f ; Bruno Eymard^b ; Anthony Behin^b ; Karim Wahbi^a ; ^g ; Philippe Labrune^h ; ⁱ ; Jean-Yves Hogrel^a

关键词：Glycogen storage disease type III ; Debranching enzyme deficiency ; Metabolic myopathy ; Outcome measures

刊名：Neuromuscular Disorders

出版年：2016

5.Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV

作者：Haiqing Yi ; Fengqin Gao ; Stephanie Austin ; Priya S Kishnani ; ^{kishn001@mc.duke.edu} ; Baodong Sun ; ^{baodong.sun@duke.edu}

关键词：GSD IV ; glycogen storage disease type IV ; GAA ; acid α-glucosidase ; GBE ; glycogen branching enzyme ; ERT ; enzyme replacement therapy ; M6PR ; mannose-6-phosphate receptor ; AST ; aspartate aminotransferase ; ALT ; alanine aminotransferase

刊名：Molecular Genetics and Metabolism Reports

出版年：2016

6.A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle

作者：Edoardo Malfatti^a ; ^b ; ^c ; ^d ; Christine Barnerias^d ; ^e ; ^f ; Carola Hedberg-Oldfors^g ; Cyril Gitiaux^d ; ^f ; ^h ; Audrey Benezit^d ; ^e ; ^f ; Anders Oldfors^g ; Robert-Yves Carlier^d ; ^f ; ⁱ ; ^j ; Susana Quijano-Roy^d ; ^f ; ^j ; Norma B. Romero^a ; ^b ; ^c ; ^d ; ^{nb.romero@institut-myologie.org" class="auth_mail" title="E-mail the corresponding author}

关键词：Glycogen storage disorders ; Glycogenosis type IV ; Branching enzyme deficiency ; Metabolic myopathies ; Polyglucosan

刊名：Neuromuscular Disorders

出版年：2016

7.A novel GBE1 gene variant in a child with glycogen storage disease type IV

作者：Samar M. Said ; MD^a ; ^{said.samar@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Marine I. Murphree ; CGC^b ; Taofic Mounajjed ; MD^a ; Mounif El-Youssef ; MD^c ; Lizhi Zhang ; MD^a

关键词：Glycogen storage disease ; Novel GBE1 variant ; Liver biopsy ; Glycogen branching enzyme ; Hepatocyte inclusions

刊名：Human Pathology

出版年：2016

8.Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis

关键词：GDE ; Glycogen debranching enzyme ; BMD ; bone mineral density ; DXA ; dual-emission-X-ray absorptiometry ; QUS ; quantitative ultrasound ; OC ; osteocalcin ; CTX ; C-terminal cross-linking telopeptide of type I collagen ; IPAQ ; International Physical Activity Questionnaire

刊名：Bone

出版年：2016

9.Muscle Ultrasound in Patients with Glycogen Storage Disease Types I and III

作者：Renate J. Verbeek^&lowast ; ; Christiaan P. Sentner^&dagger ; ; G. Peter A. Smit^&dagger ; ; Natasha M. Maurits^&lowast ; ; Terry G.J. Derks^&dagger ; ; Johannes H. van der Hoeven^&lowast ; ; Deborah A. Sival^&dagger ; ; ^{d.a.sival@umcg.nl" class="auth_mail" title="E-mail the corresponding author}

关键词：Glycogen storage disease ; Muscle ultrasound density ; Muscle force ; Electromyography ; Myopathy ; Echogenicity ; Glycogen ; Child ; Adult

刊名：Ultrasound in Medicine & Biology

出版年：2016

10.0224: Cardiac involvement in glycogen storage disease type III

作者：Abdallah Fayssoil ; ⁽¹⁾ ; ^{fayssoil2000@yahoo.fr" class="auth_mail" title="E-mail the corresponding author} ; Pascal Laforet⁽²⁾ ; Vincent Gajdos⁽³⁾ ; Franç ; ois Petit⁽³⁾ ; Aurelie Hubert⁽³⁾ ; Philippe Labrune⁽³⁾ ; Bruno Eymard⁽³⁾ ; Denis Duboc⁽⁴⁾ ; Karim Wahbi⁽⁴⁾

刊名：Archives of Cardiovascular Diseases Supplements

出版年：2016

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