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M

Maurizio Scarpa

university of birmingham

52H指数
343论文数
9.1K被引数
收录论文 149
发表时间
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Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome SurveyII型黏多糖贮积症患者女性：来自亨特结局调查的见解
errJIMD Reports
IF1.8
err2025-12-02
err0
errOAAI
errBurton, Barbara K.; Amartino, Hernan; Giugliani, Roberto; Kampmann, Christoph; Raiman, Julian; Scarpa, Maurizio; Tylki-szymanska, Anna; Audi, Jennifer; Botha, Jaco; Jain, Siddarth; Muenzer, Joseph
err分享
err收藏
Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm儿科迟发性庞贝病：来自一项意大利全国性调查的38例患者的结果及针对性诊断算法的提出
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-28
err0
errOAAI
errMarco Spada; Serena Gasperini; Massimiliano Filosto; Guja Astrea; Beatrice Bracci; Claudio Bruno; Alberto Burlina; Anna Cavallini; Daniela Concolino; Viola Crescitelli; Adele D’Amico; Federica Deodato; Carlo Dionisi-Vici; Maria Alice Donati; Simona Fecarotta; Rita Fischetto; Agata Fiumara; Francesca Furlan; Vincenza Gragnaniello; Damiano Mala; Monica Marica; Francesca Menni; Veronica Pagliardini; Claudia Panicucci; Giancarlo Parenti; Andrea Pession; Federica Ricci; Valentina Rovelli; Michele Sacchini; Filippo Maria Santorelli; Lucia Santoro; Maurizio Scarpa; Roberta Taurisano; Albina Tummolo; Francesco Porta
err分享
err收藏
Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation长期安全性结局及患者对居家静脉酶替代疗法（ERT）的偏好： Pompe病和Mucopolysaccharidosis Type I（MPS-I）两年观察的最终结果
errOrphanet Journal of Rare Diseases
IF3.5
err2025-11-22
err0
errOAAI
errAntonio Toscano; Olimpia Musumeci; Michele Sacchini; Sabrina Ravaglia; Gabriele Siciliano; Agata Fiumara; Elena Verrecchia; Rita Fischetto; Grazia Crescimanno; Roberta Taurisano; Annalisa Sechi; Serena Gasperini; Vittoria Cianci; Lorenzo Maggi; Filippo Brighina; Rita Barone; Annalia Cianflone; Marta Balzarini; Rossella Parini; Maurizio Scarpa
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err收藏
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care欧洲儿童与成人遗传性代谢病患者的姑息治疗：一项未被充分利用的支持性治疗与护理服务
errJournal of Inherited Metabolic Disease
IF3.8
err2025-10-25
err0
errOAAI
errAnja Lee; Yngve Thomas Bliksrud; Michela Onali; Julia Neugebauer; Francois Eyskens; Dorothea Haas; Karin Mossler; Antije Enekwe; Beata Kiec-Wilk; Lien My Diep; Cinzia Maria Bellettato; Boris Zernikow; Maurizio Scarpa; Shamima Rahman; Trine Tangeraas; MetabERN collaboration group on palliative care
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
err分享
err收藏
International Survey on Phenylketonuria Newborn Screening国际苯丙酮尿症新生儿筛查调查
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 18
IF4
err2025-08-21
err0
PREAI
errDomen Trampuž; Peter C. J. I. Schielen; Rolf H. Zetterström; Maurizio Scarpa; François Feillet; Viktor Kožich; Trine Tangeraas; Ana Drole Torkar; Matej Mlinarič; Daša Perko; Žiga Iztok Remec; Barbka Repič Lampret; Tadej Battelino; ISNS Study Group on PKU; Francjan J. van Spronsen; James R. Bonham; Urh Grošelj
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err收藏
International Survey on Phenylketonuria Newborn Screening
errINTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
err2025-02-26
err0
errOAAI
errTrampuz, Domen; Schielen, Peter C. J. I.; Zetterstrom, Rolf H.; Scarpa, Maurizio; Feillet, Francois; Kozich, Viktor; Tangeraas, Trine; Torkar, Ana Drole; Mlinaric, Matej; Perko, Dasa; Remec, Ziga Iztok; Lampret, Barbka Repic; Battelino, Tadej; ISNS Study Grp PKU, Francjan J.; van Spronsen, Francjan J.; Bonham, James R.; Groselj, Urh
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err收藏
An evidence-based individual treatment trial with adalimumab in a patient with Morquio syndrome
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errWiesinger, Anna-Maria; Bigger, Brian; Giugliani, Roberto; Lampe, Christina; Scarpa, Maurizio; Moser, Tobias; Zimmermann, Georg; Lagler, Florian
err分享
err收藏
Gangliosidoses: Understanding disease evolution in GM1 and GM2
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGiugliani, Roberto; Harmatz, Paul; Heron, Benedicte; Hahn, Andreas; Patterson, Marc; Bourchany, Aurelie; Valle, Daniel A. D.; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez
err分享
err收藏
Children with chronic acid sphingomyelinase deficiency treated with olipudase alfa for 4+years show improvements or normalization in multiple disease manifestations: Final results of the ASCEND-Peds trial
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errScarpa, Maurizio; Diaz, George; Guigliani, Roberto; Mengel, Eugen; Guffon, Nathalie; Witters, Peter; Ganesh, Jaya; Armstrong, Nicole M.; Srivastava, Shruti; Kim, Yong
err分享
err收藏
Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4 years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errWasserstein, Melissa; Gallagher, Renata C.; Barbato, Antonio; Guigliani, Roberto; Guelbert, Norberto; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Villarrubia, Jesus; Thurberg, Beth L.; Armstrong, Nicole M.; Srivastav, Shruti; Wisniewska, Urszula; Kumar, Monica
err分享
err收藏
Characterization of patients with mucopolysaccharidosis type VII (MPS VII) in the disease monitoring program (DMP)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGrant, Christina L.; Wang, Raymond Y.; Giugliani, Roberto; Gonzalez-Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara K.; Portmann, Monica Penon; Oussoren, Esmeralda; Martins, Esmeralda E.; Durand, Consuelo; Chabrol, Brigitte; Hetzer, Joel; Cohen, Jeanne M.; Marsden, Deborah; Merrittii, J. Lawrence
err分享
err收藏
Application of a natural history study on an investigational drug clinical development
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errGiugliani, Roberto; Valle, Daniel A. D.; Heron, Benedicte; Harmatz, Paul; Hahn, Andreas; Horovitz, Dafne D. G.; Patterson, Marc; Bourchany, Aurelie; Barone, Rita Maria Elisa; Chabrol, Brigitte; Ardissone, Anna; Batzios, Spyros; Scarpa, Maurizio; Schneider, Susanne A.; Carp, Nicoleta; Freitag, Christian; Gill, Aidan; de Frutos, Laura Lopez
err分享
err收藏
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective
errJOURNAL OF CLINICAL MEDICINE
IF2.9
err2024-11-20
err0
errOAAI
errCastaman, Giancarlo; Linari, Silvia; Barbato, Antonio; Costantino, Niko; Dionisi-Vici, Carlo; Menni, Francesca; Procopio, Elena; Ramat, Silvia; Torquati, Fernanda; Verrecchia, Elena; Scarpa, Maurizio
err分享
err收藏
Towards needed improvements in inherited metabolic medicine in adulthood: The SIMMESN adult metabolic working group and MetabERN Joint Position Statement
errNUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
IF3.7
err2024-11-01
err2
PREAI
errSechi, Annalisa; Urban, Maria Letizia; Murphy, Elaine; Pession, Andrea; Scarpa, Maurizio
err分享
err收藏
Clinical relevance of diffusing lung capacity for carbon monoxide (DLCO) in patients with acid sphingomyelinase disease (ASMD): a post-hoc analysis
errEUROPEAN RESPIRATORY JOURNAL
IF21
err2024-10-30
err0
PREAI
errWuyts, Wim A.; Bonella, Francesco; Scarpa, Maurizio; Kapetanakis, Venediktos; Shukla, Pragya; Fournier, Marie; Gasparic, Maja; Pulikottil-Jacob, Ruth
err分享
err收藏
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-08-01
err1
errOAAI
errGuffon, Nathalie; Burton, Barbara K.; Ficicioglu, Can; Magner, Martin; Gil-Campos, Mercedes; Lopez-Rodriguez, Monica A.; Jayakar, Parul; Lund, Allan M.; Tal, Galit; Garcia-Ortiz, Jose Elias; Stepien, Karolina M.; Ellaway, Carolyn; Al-Hertani, Walla; Giugliani, Roberto; Cathey, Sara S.; Hennermann, Julia B.; Lampe, Christina; McNutt, Markey; Lagler, Florian B.; Scarpa, Maurizio; Sutton, V. Reid; Muschol, Nicole
err分享
err收藏
Challenges and opportunities in neurometabolic disease treatment with enzyme delivery
errEXPERT OPINION ON DRUG DELIVERY
IF5.4
err2024-07-04
err0
PREAI
errBegley, David; Gabathuler, Reinhard; Pastores, Gregory; Garcia-Cazorla, Angeles; Ardigo, Diego; Scarpa, Maurizio; Tomanin, Rosella; Tosi, Giovanni
err分享
err收藏
Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-05-07
err0
errOAAI
errGiugliani, Roberto; Gonzalez-Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara; Wang, Raymond; Martins, Esmeralda; Oussoren, Esmeralda; Hennermann, Julia B.; Chabrol, Brigitte; Grant, Christina L.; Sun, Angela; Durand, Consuelo; Hetzer, Joel; Malkus, Betsy; Marsden, Deborah; Merritt II, J. Lawrence
err分享
err收藏
Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err3
errOAAI
errSantoro, Lucia; Cefalo, Graziella; Canalini, Fabrizio; Rossi, Silvia; Scarpa, Maurizio
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
J
Jean‐Yves Blay
H 指数: 158 · 论文数: 2.4K
S
Samuel F. Berkovic
H 指数: 145 · 论文数: 1.2K
P
Perry Elliott
H 指数: 137 · 论文数: 1.0K
F
Franco Locatelli
H 指数: 125 · 论文数: 2.2K
D
D.N. Cooper
H 指数: 119 · 论文数: 1.6K
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