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Paul Harmatz

University of North Carolina School of Medicine

65H指数
532论文数
1.5W被引数
收录论文 234
发表时间
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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
errJIMD Reports
IF1.8
err2026-02-22
err0
errOAAI
errMuenzer, 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
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An Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II静脉注射的脑穿透性酶疗法用于粘多糖贮积症II型
errNew England Journal of Medicine
IF78.5
err2026-01-01
err4
PREAI
errMuenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Rajan, Deepa S.; Jones, Simon A.; van den Hout, Johanna M. P.; Mitchell, John J.; Bhalla, Akhil; Engmann, Natalie J.; Zubizarreta, Imanol; Dong, Wei; Model, Fabian; Watts, Ryan J.; Troyer, Matthew D.; Chin, Peter S.; Ho, Carole
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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
errMolecular Genetics and Metabolism
IF3.5
err2025-11-02
err0
PREAI
errJoseph 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
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Liver iron susceptometry is different in patients with transfusion dependent thalassemia and sickle cell disease compared with hemochromatosis肝脏铁磁成像在输血依赖性地中海贫血和镰状细胞病患者中与血色病相比存在差异。
errBiochemistry and Biophysics Reports
IF2.2
err2025-11-01
err0
errOAAI
errFischer, Roland; Weyhmiller, Marcela G.; Fung, Ellen B.; Pakbaz, Zahra; Paulson, Doug N.; Vichinsky, Elliott P.; Nielsen, Peter; Harmatz, Paul R.
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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 trialArimoclomol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
errMolecular Genetics and Metabolism
IF3.5
err2025-07-07
err0
PREAI
errEugen 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
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Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up长期酶替代疗法： mucopolysaccharidosis VI 临床监测项目15年随访结果
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-07-01
err0
errOAAI
errBurton, Barbara K.; Harmatz, Paul R.; Horvathova, Veronika; Lail, Alice; Lampe, Christina; Parini, Rossella; Sharma, Reena; Teles, Elisa Lea
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Safety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases黏多糖贮积症麻醉的安全性——一项包含600多例病例的比较性回顾性队列研究
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-06-01
err0
PREAI
errMoser, Simon; Harmatz, Paul; Rhoads, William; Rowe, Richard; Lagler, Florian B.
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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
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Campsiite® phase I/II/III: an interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHarmatz, Paul; Ficicioglu, Can; Giugliani, Roberto; Rajan, Deepa; Day-Salvatore, Debra-Lynn; Hagood, Joseph; Gilmor, Michelle; Cho, Yoonjin; Mulatya, Caroline; Phillips, Dawn; Boulos, Nidal; Pisani, Laura; Falabella, Paulo
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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
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Anesthesia in mucopolysaccharidoses - Retrospective analysis and insights of a large cohort
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMoser, Simon; Harmatz, Paul; Rhoads, William; Rowe, Richard; Lagler, Florian
err分享
err收藏
Baseline data from the proof of concept study to evaluate the safety and early efficacy of vosoritide for the treatment of growth deficits in MPS IVA and VI
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errFung, Ellen B.; Gibson, Eden; Lynch, Leslie; Madden, Jacqueline; Kammen, Bamidele; Chang, Irene; Harmatz, Paul
err分享
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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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Building safe systems for patients with mucopolysaccharidoses (MPS) - Results of an expert survey on patient safety
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errLagler, Florian B.; Stepien, Karolina M.; Akyol, Umut; Lampe, Christina; Bruce, Iain A.; Walker, Robert; De Souza, Carolina Fischinger Moura; Mitchell, John J.; Harmatz, Paul; Giugliani, Roberto
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Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II (MPS II): A phase 1/2 study
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMuenzer, Joseph; Burton, Barbara K.; Harmatz, Paul; Rajan, Deepa; Jones, Simon; van den Hout, Hannerieke J. M.; Mitchell, John J.; Troyer, Matt; Engmann, Natalie; Caprihan, Rupa; Bhalla, Akhil; Zubizarreta, Imanol; Weichert, Arlette; Chin, Peter; Ho, Carole
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Interim results from a first in human phase 1 clinical trial of in utero enzyme replacement therapy for lysosomal disorders
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errMackenzie, Tippi C.; Lianoglou, Billie; Canepa, Emma; Herzeg, Akos; Borgas, Beltran; Cohen, Jennifer L.; Bali, Deeksha; Young, Sarah; Gonzalez-Vele, Juan; Munar, Dane; Gelb, Michael H.; Herbs, Zackary (Ari) M.; Chakraborty, Pranesh; Kishnani, Priya; Harmatz, Paul
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Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases对受累于早期发病溶酶体贮积症的胎儿进行产前酶替代治疗
errAMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
IF4.4
err2025-01-31
err0
PREAI
errBorges, B; Canepa, E; Chang, IJ; Herzeg, A; Lianoglou, B; Kishnani, PS; Harmatz, P; Mackenzie, TC; Cohen, JL
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err收藏
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
errGENETICS IN MEDICINE
IF6.2
err2024-12-01
err0
errOAAI
errSavarirayan, 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
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CAMPSIITET Phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errPisani, Laura; Ficicioglu, Can; Harmatz, Paul; Giugliani, Roberto; Rajan, Deepa; Hagood, Joseph; Fiscella, Michele; Yang, Lin; Gilmor, Michelle; Cho, Yoonjin; Mulatya, Caroline; Phillips, Dawn; Boulos, Nidal; Falabella, Paulo
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α- L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial
errMOLECULAR THERAPY
IF12
err2024-03-01
err1
errOAAI
errHarmatz, Paul; Giugliani, Roberto; Martins, Ana Maria; Hamazaki, Takashi; Kubo, Toru; Kira, Ryutaro; Minami, Kohtaro; Ikeda, Toshiaki; Moriuchi, Hiroaki; Kawashima, Satoshi; Takasao, Naoko; So, Sairei; Sonoda, Hiroyuki; Hirato, Tohru; Tanizawa, Kazunori; Schmidt, Mathias; Sato, Yuji
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err收藏

研究方向

暂无研究方向
合作学者
合作期刊
A
Alan F. Schatzberg
H 指数: 110 · 论文数: 639
R
Roland A. Fischer
H 指数: 110 · 论文数: 1.4K
K
Kelvin O. Lim
H 指数: 109 · 论文数: 626
M
Michael H. Gelb
H 指数: 105 · 论文数: 828
V
Valérie Cormier‐Daire
H 指数: 99 · 论文数: 1.1K
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