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F

Federica Deodato

Bambino Gesù
H指数:31
被引数:3,260

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2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

2025年尼曼-皮克病C型的共识临床管理指南

Journal of Inherited Metabolic Disease
IF3.8
2026-04-260
OAAI
Tarekegn Hiwot; Forbes D. Porter; Tatiana Bremova-Ertl; Uma Ramaswami; Caroline Hastings; Bénédicte Héron; Justin Hopkin; Joella Melville; Hernan Amartino; Mireia del Toro; Federica Deodato; Fatih Ezgü; Paul Gissen; James B. Gibson; Can Ficicioglu; Roberto Giugliani; Orna Staretz-Chacham; Frances Platt; Nathalie Guffon; Kristina Julich; Nikola Kresojević; Anna Lehman; Yann Nadjar; Susanne A. Schneider; Simon Jones; Eugen Mengel; Michel Tchan; Mark Walterfang; Ozlem Goker-Alpan; Charlotte Dawson; Sandra Cowie; Toni Mathieson; Elizabeth Berry-Kravis; Marc C. Patterson
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

Orphanet Journal of Rare Diseases
IF3.5
2025-11-280
OAAI
Marco 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
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial

Arimoclomol在尼曼-皮克病C型中的长期疗效与安全性：NPC-002 48个月开放标签扩展试验2/3期的最终结果

Molecular Genetics and Metabolism
IF3.5
2025-07-070
PRE
Eugen Mengel; Rosalia M. Da Riol; Mireia Del Toro; Federica Deodato; Matthias Gautschi; Stephanie Grunewald; Sabine Weller Grønborg; Paul Harmatz; Julia B. Hennermann; Bénédicte Héron; Esther M. Maier; Saikat Santra; Reena Sharma; Anna Tylki-Szymanska; Malene Cording; Louise Himmelstrup; Sven Guenther; Christine í Dali
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy

VI型黏多糖贮积症患者经肝脏靶向基因治疗后多年度酶表达

MED
IF11.8
2024-11-010
PRE
Rossi, Alessandro; Romano, Roberta; Fecarotta, Simona; Dell'Anno, Margherita; Pecorella, Valentina; Passeggio, Roberta; Zancan, Stefano; Parenti, Giancarlo; Santamaria, Francesca; Borgia, Francesco; Deodato, Federica; Funghini, Silvia; Rupar, Charles A.; Prasad, Chitra; O'Callaghan, Mar; Mitchell, John J.; Valsecchi, Maria Grazia; la Marca, Giancarlo; Galimberti, Stefania; Auricchio, Alberto; Brunetti-Pierri, Nicola
Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy-a Delphi consensus
INTERNAL AND EMERGENCY MEDICINE
IF3.8
2023-03-075
PRE
Scarpa, Maurizio; Barbato, Antonio; Bisconti, Annalisa; Burlina, Alberto; Concolino, Daniela; Deodato, Federica; Di Rocco, Maja; Dionisi-Vici, Carlo; Donati, Maria Alice; Fecarotta, Simona; Fiumara, Agata; Galeone, Carlotta; Giona, Fiorina; Giuffrida, Gaetano; Manna, Raffaele; Mariani, Paolo; Pession, Andrea; Scopinaro, Annalisa; Spada, Marco; Spandonaro, Federico; Trifiro, Gianluca; Carubbi, Francesca; Cappellini, Maria Domenica
Persistent effect of arimoclomol in patients with Niemann-Pick disease type C: 24-month results from an open-label extension of a pivotal phase 2/3 study

arimoclomol对C型niemann-pick病患者的持续作用: 关键2/3期研究的开放标签扩展的24个月结果

MOLECULAR GENETICS AND METABOLISM
IF3.5
2022-02-010
PRE
Patterson, Marc; Mengel, Eugen; Da Rio, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study (vol 15, 328, 2020)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-06-011
OAAI
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; Dali, Christine i
Persistent effect of arimoclomol in patients with Nuemann-Pick disease type C: 12-month results from an open-label extension of a pivotal phase 2/3 study
MOLECULAR GENETICS AND METABOLISM
IF3.5
2021-02-010
PREAI
Patterson, Marc C.; Mengel, Eugen; Da Riol, Rosalia M.; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Petersen, Nikolaj Havnsoe Torp; Ingemann, Linda; Hansen, Thomas; Blaettler, Thomas; Kirkegaard, Thomas; Dali, Christine I.
Clinical disease progression and biomarkers in Niemann-Pick disease type C: a prospective cohort study
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2020-11-2315
OAAI
Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Heron, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; i Dali, Christine
Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants

意大利C型niemann-pick疾病的分子遗传学: 105例患者的最新情况和18种NPC1新变异的描述

JOURNAL OF CLINICAL MEDICINE
IF2.9
2020-03-0326
OAAI
Dardis, Andrea; Zampieri, Stefania; Gellera, Cinzia; Carrozzo, Rosalba; Cattarossi, Silvia; Peruzzo, Paolo; Dariol, Rosalia; Sechi, Annalisa; Deodato, Federica; Caccia, Claudio; Verrigni, Daniela; Gasperini, Serena; Fiumara, Agata; Fecarotta, Simona; Carecchio, Miryam; Filosto, Massimiliano; Santoro, Lucia; Borroni, Barbara; Bordugo, Andrea; Brancati, Francesco; Russo, Cinzia V.; Di Rocco, Maja; Toscano, Antonio; Scarpa, Maurizio; Bembi, Bruno
Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo controlled trial with a novel treatment
MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-02-011
PREAI
Patterson, Marc; Mengel, Eugen; Bembi, Bruno; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Gronborg, Sabine; Harmatz, Paul; Heron-Longe, Benedicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Ingemann, Linda; Petersen, Nikolaj H. T.; Jensen, Thomas Kirkegaard; Dali, Christine I.

研究方向

暂未获取到该数据
C
Carlo Dionisi‐Vici
H 指数:68论文数:455被引数:1.7万
H 指数:0论文数:66被引数:0
S
Sara Boenzi
H 指数:23论文数:54被引数:1,542
B
Bruno Bembi
H 指数:53论文数:200被引数:8,351
M
Mireia del Toro
H 指数:25论文数:99被引数:3,134
S
Simona Fecarotta
H 指数:24论文数:84被引数:1,667
G
Giancarlo Parenti
H 指数:55论文数:323被引数:1.9万
A
Agata Fiumara
H 指数:36论文数:194被引数:4,387
M
Matthias Gautschi
H 指数:28论文数:99被引数:4,166
E
Enrico Bertini
H 指数:113论文数:1,266被引数:5.5万