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M

Mireia del Toro

hospital universitari vall d'hebron
H指数:25
被引数:3,134

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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
Non-neurological, non skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy -OTL-203- for Hurler syndrome

非神经性、非骨骼结局：用于Hurler综合征的造血干细胞及祖细胞-基因疗法-OTL-203

Molecular Therapy
IF12
2025-09-270
PRE
Francesca Tucci; M.Luz Uria Oficialdegui; Giulia Consiglieri; Matilde Cossutta; Chiara Filisetti; Francesca Fumagalli; Carla Butera; Roberto Santangelo; Michele Colombo; Maria Pia Manitto; Monica Stoppani; Elisabetta Martina; Giulia Danè; Chiara Camesasca; Giulia Risca; Maurizio De Pellegrin; Stefano Scarparo; Marina Sarzana; Cristina Puricelli; Stefania Galimberti; Silvia Darin; Paolo Silvani; Sonia Bonanomi; Serena Gasperini; Luigi Naldini; Bernhard Gentner; Rossella Parini; Mireia Del Toro; Cristina Diaz-de-Heredia; Alessandro Aiuti; Maria Ester Bernardo
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
Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry

理解尿素循环障碍的自然史及当前治疗策略对其的影响：来自UCD西班牙登记研究的见解

NUTRIENTS
IF5
2025-03-280
OA
Martin-Hernandez, Elena; Bellusci, Marcello; Perez-Mohand, Patricia; Medina, Patricia Correcher; Blasco-Alonso, Javier; Morais-Lopez, Ana; de las Heras, Javier; Olivas, Silvia Maria Meavilla; Dougherty-de Miguel, Lucy; Couce, Maria Luz; Villarroya, Elvira Canedo; Jimenez, Maria Concepcion Garcia; Moreno-Lozano, Pedro Juan; Vives, Inmaculada; Gil-Campos, Mercedes; Stanescu, Sinziana; Ceberio-Hualde, Leticia; Camprodon, Maria; Cortes-Saladelafont, Elisenda; Lopez-Urdiales, Rafael; Hurtado, Mercedes Murray; Armenteros, Ana Maria Marquez; Corcoles, Concha Sierra; Pena-Quintana, Luis; Ruiz-Pons, Monica; Alcalde, Carlos; Castellanos-Pinedo, Fernando; Dios, Elena; Barrio-Carreras, Delia; Martin-Cazana, Maria; Garcia-Peris, Monica; Andrade, Jose David; Garcia-Volpe, Camila; de los Santos, Mariela; Garcia-Cazorla, Angels; del Toro, Mireia; Felipe-Rucian, Ana; Monroy, Maria Jose Comino; Sanchez-Pintos, Paula; Matas, Ana; Ortega, David Gil; Martin-Rivada, Alvaro; Bergua, Ana; Belanger-Quintana, Amaya; Vitoria, Isidro; Yahyaoui, Raquel; Perez, Belen; Morales-Conejo, Montserrat; Quijada-Fraile, Pilar
implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns (vol 16, 195, 2021)
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2023-07-132
OAAI
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
JOURNAL OF CLINICAL MEDICINE
IF2.9
2022-08-289
OAAI
Martin-Hernandez, Elena; Quijada-Fraile, Pilar; Correcher, Patricia; Meavilla, Silvia; Sanchez-Pintos, Paula; de las Heras Montero, Javier; Blasco-Alonso, Javier; Dougherty, Lucy; Marquez, Ana; Pena-Quintana, Luis; Canedo, Elvira; Concepcion Garcia-Jimenez, Maria; Moreno Lozano, Pedro Juan; Murray Hurtado, Mercedes; Camprodon Gomez, Maria; Barrio-Carreras, Delia; de los Santos, Mariela; del Toro, Mireia; Couce, Maria L.; Vitoria Minana, Isidro; Morales Conejo, Montserrat; Bellusci, Marcello
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
NEUROLOGY
IF8.5
2022-03-0113
OAAI
Schluter, Agatha; Rodriguez-Palmero, Agusti; Verdura, Edgard; Velez-Santamaria, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas-Serra, Laura; Jose Martinez, Juan; Guilera, Cristina; Giros, Marisa; Artuch, Rafael; Yoldi, Maria Eugenia; O'Callaghan, Mar; Garcia-Cazorla, Angels; Armstrong, Judith; Marti, Itxaso; Mondragon Rezola, Elisabet; Redin, Claire; Louis Mandel, Jean; Conejo, David; Sierra-Corcoles, Concepcion; Beltran, Sergi; Gut, Marta; Vazquez, Elida; Del Toro, Mireia; Troncoso, Monica; Perez-Jurado, Luis A.; Gutierrez-Solana, Luis G.; Lopez de Munain, Adolfo; Casasnovas, Carlos; Aguilera-Albesa, Sergio; Macaya, Alfons; Pujol, Aurora
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
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns
ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2021-04-3027
OAAI
Pajares, Sonia; Arranz, Jose Antonio; Ormazabal, Aida; Del Toro, Mireia; Garcia-Cazorla, Angeles; Navarro-Sastre, Aleix; Lopez, Rosa Maria; Meavilla, Silvia Maria; de los Santos, Mariela Mercedes; Garcia-Volpe, Camila; de Aledo-Castillo, Jose Manuel Gonzalez; Argudo, Ana; Marin, Jose Luis; Carnicer, Clara; Artuch, Rafael; Tort, Frederic; Gort, Laura; Fernandez, Rosa; Garcia-Villoria, Judit; Ribes, Antonia
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
FRONTIERS IN MEDICINE
IF3
2021-02-2536
OAAI
Stepien, Karolina M.; Kiec-Wilk, Beata; Lampe, Christina; Tangeraas, Trine; Cefalo, Graziella; Belmatoug, Nadia; Francisco, Rita; del Toro, Mireia; Wagner, Leona; Lauridsen, Anne-Grethe; Sestini, Sylvia; Weinhold, Nathalie; Hahn, Andreas; Montanari, Chiara; Rovelli, Valentina; Bellettato, Cinzia M.; Paneghetti, Laura; van Lingen, Corine; Scarpa, Maurizio
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
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
F
Federica Deodato
H 指数:31论文数:103被引数:3,260
M
Matthias Gautschi
H 指数:28论文数:99被引数:4,166
A
Alfons Macaya
H 指数:50论文数:254被引数:1.1万
G
Guillem Pintos‐Morell
H 指数:32论文数:176被引数:4,357
S
Saikat Santra
H 指数:37论文数:142被引数:4,832
E
Esther M. Maier
H 指数:37论文数:146被引数:4,262
S
Sabine Grønborg
H 指数:21论文数:69被引数:1,556
A
Anna Tylki‐Szymańska
H 指数:49论文数:388被引数:9,351
M
Marc C. Patterson
H 指数:62论文数:358被引数:1.3万
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,553