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Simon Jones

St Mary's Hospital

59H指数
502论文数
1.0W被引数
收录论文 260
发表时间
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Clinical and biochemical correction of a patient with neurodegenerative Mucopolysaccharidosis IIIA using hematopoietic stem cell gene therapy使用造血干细胞基因疗法对神经退行性黏多糖贮积症IIIA患者进行临床和生化纠正
errMolecular Therapy
IF12
err2026-09-25
err0
PREAI
errJane L. Kinsella; Simon A. Jones; Karen F. Buckland; Rebecca J. Holley; Helena Lee; Wendy Ogden; Jane Potter; Heather J. Church; Kathryn L. Brammeier; Karen L. Tylee; Stuart Ellison; Rachel Searle; Claire Booth; Farzin Farzeneh; Louise Sherwin; Adrian J. Thrasher; Stewart Rust; Brian W. Bigger; Robert F. Wynn
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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders当代遗传性溶酶体疾病的病理解剖分类学
errJournal of Inherited Metabolic Disease
IF3.8
err2026-09-06
err0
PREAI
errEamon P. McCarron; Nenad Blau; Emily R. Eden; Frances M. Platt; Johannes M. Aerts; Simon A. Jones; Carlos R. Ferreira; Karolina M. Stepien
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err收藏
Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion婴儿期起病的溶酶体酸性脂肪酶缺乏症的营养管理最佳实践：基于病例的讨论
errNutrients
IF5
err2026-01-14
err0
errOAAI
errFiona J. White; Javier de las Heras; Celia Rodríguez-Borjabad; Simon A. Jones; Alexander Y. Kim; Jenna Moore; Florian Abel; Laura Frank; Rosie Jones; Suresh Vijay
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err收藏
Chest-sited intraventricular access devices for cerliponase alfa infusion in Batten disease at a single tertiary United Kingdom pediatric center胸位心室内心脏通路装置在单一英国三级儿科中心用于Batten病中cerliponase alfa的输注
errJournal of Neurosurgery-Pediatrics
IF2.1
err2026-01-01
err1
PREAI
errRead, Jack; Donald, Aimee; Rhead, Stephanie; Acquaah, Lervia; Chan, Gabrielle; Heap, Fiona; Brown, Bethany; Ghosh, Arunabha; Jones, Simon Allan; Ram, Dipak; Kamaly-Asl, Ian
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‘Maybe you should have a bowl of ice cream’: Inequities in patient-clinician interactions among individuals with chronic low back pain.“也许你应该吃一碗冰淇淋”：慢性下腰痛患者与临床医生互动中的不平等。
errThe Journal of Pain
IF4
err2025-11-13
err0
errOAAI
errMark Vorensky; Allison Squires; Zina Trost; John A. Sturgeon; Adam T. Hirsh; Nisha Sajnani; Simon Jones; Smita Rao
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Response to correspondence from McCarthy et al. regarding maternal sepsis screening and the role of the neutrophil-to-lymphocyte ratio对McCarthy等人关于产褥期脓毒症筛查和中性粒细胞与淋巴细胞比值作用的信函的回应
errInternational Journal of Obstetric Anesthesia
IF2.3
err2025-10-30
err0
PREAI
errToby Culling; Danielle Camilleri; Claire Bertorelli; Angela Strang; Shaun Oram; Federica Faggian; Simran Sharma; Anouk Ridgway; Summia Zaher; Mario Labeta; Simon A. Jones; Luke C Davies; John Watkins; Kate Siddall; Vikki Keeping; Kathryn Simpson; Maryanne Bray; Peter Ghazal; Sarah F. Bell; Rachel E. Collis
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Venglustat in GM2 Gangliosidoses and Related Disorders: Results of the AMETHIST Randomized Controlled and Basket Trials维格鲁斯塔特在GM2神经节苷脂贮积症及相关疾病中的应用：AMETHIST随机对照试验和篮式试验的结果
errGenetics in Medicine
IF6.2
err2025-10-15
err0
errOAAI
errCynthia J. Tifft; Isabela Batsu; Roberto Giugliani; Harmonie Goyeau; Andreas Hahn; Simon A. Jones; Pascal Minini; Ichiro Nakashima; Mar O’Callaghan; Susan Perlman; Nathan Thibault; Madhurima Uppara Kowthalam; Riliang Zheng; Timothy M. Cox
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Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome长期神经肌肉、心脏和肝脏结局：1例患Chanarin-Dorfman综合征的成年男性
errMOLECULAR GENETICS AND METABOLISM REPORTS
IF1.9
err2025-10-01
err0
errOAAI
errNoman, Kinza; Tridimas, Andreas; Lilleker, James B.; Nucifora, Gaetano; Woolfson, Peter; du Plessis, Daniel; Woodall, Alison; Oldham, Andrew; Roberts, Mark E.; Bassett, John; Roncaroli, Federico; Jones, Simon A.; Coassin, Stefan; Kronenberg, Florian; Stepien, Karolina M.
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Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review黏多糖贮积症II型躯体表现的治疗和护理中的未满足需求：一项针对性文献综述
errMolecular Genetics and Metabolism
IF3.5
err2025-09-29
err0
errOAAI
errBarbara K. Burton; Daniel Fertek; Peter S. Chin; Carole Ho; Roberto Giugliani; Johanna M.P. van den Hout; Martin Magner; Fatih Ezgü; Moeenaldeen AlSayed; Joseph Muenzer; Torayuki Okuyama; Simon A. Jones
err分享
err收藏
Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency奥利普酶α酶替代治疗在酸鞘磷脂酶缺乏症儿童和青少年中的长期安全性与临床结局
errJournal of Inherited Metabolic Disease
IF3.8
err2025-09-12
err0
PREAI
errMaurizio Scarpa; George A. Diaz; Roberto Giugliani; Simon A. Jones; Eugen Mengel; Nathalie Guffon; Peter Witters; Jaya Ganesh; Nicole M. Armstrong; Shruti Srivastava; Yong Kim
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err收藏
Gaucher disease Type 3: classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort戈谢病类型3：基于基因分型，对表型异质性队列中慢性神经元病变变体的分类
errGenetics in Medicine
IF6.2
err2025-06-18
err0
PREAI
errAimée Donald; Simon A. Jones; Derralynn A. Hughes; Heather J. Church; ; Timothy M. Cox
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Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots异染性脑白质营养不良的新生儿筛查：干血斑中硫酸脑苷酯和芳基硫酸酯酶A酶活性的试剂制备及测量方法
errMolecular Genetics and Metabolism
IF3.5
err2025-05-18
err0
PREAI
errAustin Shaff; Khaja Basheeruddin; Soumeya Bekri; Heather A. Brown; Heather J. Church; Justin Gianares; Xinying Hong; Simon A. Jones; Tate Kappell; Francyne Kubaski; Petra Oliva; Joseph Orsini; Abdellah Tebani; Teresa H.Y. Wu; Gojko Lalic; Michael H. Gelb
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Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action
errPEDIATRIC NEUROLOGY
IF2.1
err2025-03-01
err0
PREAI
errElvidge, Kristina L.; Farrar, Michelle A.; Christodoulou, John; Kava, Maina P.; Johnson, Alexandra M.; Patterson, Marc C.; Jones, Simon A.; Zuberi, Sameer; Wilmshurst, Jo M.; Smith, Nicholas J. C.
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Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2025-02-25
err0
errOAAI
errLopez, Maria Jose de Castro; White, Fiona J.; Holmes, Victoria; Roberts, Jane; Wu, Teresa H. Y.; Cooper, James A.; Church, Heather J.; Petts, Gemma; Wynn, Robert F.; Jones, Simon A.; Ghosh, Arunabha
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err收藏
Secondary mitochondrial dysfunction in three lysosomal disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errDewsbury, Mollie; Church, Heather J.; Jones, Simon A.; Stepien, Krolina M.; Hargreaves, Iain P.
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Unmet needs in the treatment and care of somatic manifestations in people with mucopolysaccharidosis type II (Hunter syndrome): A targeted literature review
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBurton, Barbara K.; Fertek, Daniel; Chin, Peter; Ho, Carole; Muenzer, Joseph; Okuyama, Torayuki; Jones, Simon A.
err分享
err收藏
Long-term findings of N-acetyl-L-leucine for Niemann-Pick disease type C
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errBremova-Ertl, Tatiana; Gautschi, Matthias; Gissen, Paul; Hahn, Andreas; Jones, Simon; Mengel, Eugen; Arash-Kaps, Laila; Mendoz, Grecia; Park, Julien H.; Ramaswami, Uma; Martakis, Kyriakos; Brands, Marion
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A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2-A clinical update from the PROVIDE trial
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errNeuhaus, Sarah; Tamburri, Paul; Whitley, Chester B.; Jones, Simon A.; Donald, Aimee; Harmatz, Paul; Blair, David R.; Chang, Irene; Gallagher, Renata C.; Rajan, Deepa S.; Goker-Alpan, Ozlem; Beckerman, Yael; Lopez, Victor A.; Hatch, Daniel; Shaughnessy, Lee
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Two hundred and fifty cases of Gaucher disease type 2 : A novel system of clinical categorization and evidence of genotype: phenotype correlation
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errDonalda, Aimee; Brothwellb, Shona; Ehrstedtc, Christoffer; Fernandez-Fructuosod, Jose Ramon; Leguinae, Domingo Gonzalez-Lamuno; Garciaf, Jose Maria Lloreda; Mignotg, Cyril; Munozh, Beatriz; Nursei, James H.; O'Sullivanj, Siobhan; Perssonk, Anna Nielsen; Raimanl, Julian A.; Rajanm, Deepa; Uberosn, Jose; Joneso, Simon; Churchp, Heather J.
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Gene therapy in advanced metachromatic leukodystrophy: tempering expectations
errPROTEIN & CELL
IF12.8
err2024-11-28
err0
errOAAI
errSchoenmakers, Daphne H.; Beerepoot, Shanice; Adang, Laura A.; Asbreuk, Marije A. B. C.; Bergner, Caroline G.; Bley, Annette E.; Boelens, Jaap-Jan; Calbi, Valeria; Darling, Alejandra; Eklund, Erik; Garcia Cazorla, Angeles; Gronborg, Sabine W.; Groeschel, Samuel; van Hasselt, Peter M.; Hollak, Carla E. M.; Horgan, Claire; Jones, Simon; de Koning, Tom; Laugwitz, Lucia; Lindemans, Caroline; Martin, Pascal; Mochel, Fanny; Oberg, Andreas; Ram, Dipak; Sevin, Caroline; Schoels, Ludger; Zerem, Ayelet; Wolf, Nicole, I; Fumagalli, Francesca
err分享
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研究方向

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合作学者
合作期刊
C
Claude B. Sirlin
H 指数: 128 · 论文数: 774
P
Patrick F. Chinnery
H 指数: 128 · 论文数: 939
E
Emilio Ros
H 指数: 120 · 论文数: 902
F
Florian Kronenberg
H 指数: 119 · 论文数: 736
J
John C. van Swieten
H 指数: 100 · 论文数: 643
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