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P

Paul Harmatz

University of North Carolina School of Medicine
H指数:65
被引数:1.4万

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Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension

鞘内注射依度硫酸酶-IT治疗3岁以下神经元性黏多糖贮积症II型的单臂、开放标签、II/III期子研究和扩展研究

JIMD Reports
IF1.8
2026-02-220
OAAI
Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Gutierrez-solana, Luis Gonzalez; Ruiz-garcia, Matilde; Jones, Simon A.; Guffon, Nathalie; Inbar-feigenberg, Michal; Bratkovic, Drago; Rust, Stewart; Hale, Michael; Wu, Yuna; Yee, Karen S.; Whiteman, David A. H.; Alexanderian, David
Clinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the hunter outcome survey

黏多糖贮积症II型患者18年临床特征与真实世界结局：Hunter结局调查最终报告

Molecular Genetics and Metabolism
IF3.5
2025-11-020
PRE
Joseph Muenzer; Jaco Botha; Hernan Amartino; Roberto Giugliani; Paul Harmatz; Christoph Kampmann; Bianca Link; Shuan-Pei Lin; David Molter; Julian Raiman; Maurizio Scarpa; Anna Tylki-Szymańska; Siddharth Jain; David A.H. Whiteman; Barbara K. Burton
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
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life
GENETICS IN MEDICINE
IF6.2
2024-12-010
OAAI
Savarirayan, Ravi; Irving, Melita; Wilcox, William R.; Bacino, Carlos A.; Hoover-Fong, Julie E.; Harmatz, Paul; Polgreen, Lynda E.; Mohnike, Klaus; Prada, Carlos E.; Kubota, Takuo; Arundel, Paul; Leiva-Gea, Antonio; Rowell, Richard; Low, Andrea; Sabir, Ian; Huntsman-Labed, Alice; Day, Jonathan

研究方向

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R
Roberto Giugliani
H 指数:80论文数:1,417被引数:2.4万
B
Barbara K. Burton
H 指数:64论文数:612被引数:1.3万
J
Joseph Muenzer
H 指数:48论文数:238被引数:9,600
S
Simon Jones
H 指数:59论文数:502被引数:1.0万
C
Chester B. Whitley
H 指数:50论文数:408被引数:7,763
N
Nathalie Guffon
H 指数:47论文数:262被引数:1.0万
E
Elsa Shapiro
H 指数:47论文数:256被引数:7,981
R
Rossella Parini
H 指数:52论文数:274被引数:1.0万
I
Igor Nestrašil
H 指数:25论文数:182被引数:1,928
M
Maurizio Scarpa
H 指数:52论文数:343被引数:9,128