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C

Carla E. M. Hollak

montefiore medical center
H指数:78
被引数:1.9万

个人简介

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荣誉奖项

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Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

遗传代谢病必需的口服单营养疗法产品：采用改良德尔菲法进行的证据与共识评估

Journal of Inherited Metabolic Disease
IF3.8
2026-09-300
OAAI
Nina N. Stolwijk; Bart M. F. Penninx; Annet M. Bosch; Mirjam Langeveld; Gajja S. Salomons; Carla E. M. Hollak; Essential Nutritional Therapy Products for IMDs Consensus Group
Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results

成人鞘磷脂酶缺乏症患者经Olipudase Alfa酶替代疗法治疗5年后临床结局持续改善：ASCEND试验最终结果

Journal of Inherited Metabolic Disease
IF3.8
2026-04-280
OAAI
Wasserstein, Melissa P.; Hollak, Carla E.; Barbato, Antonio; Gallagher, Renata C.; Giugliani, Roberto; Guelbert, Norberto Bernardo; Hennermann, Julia B.; Ikezoe, Takayuki; Lachmann, Robin; Lidove, Olivier; Mabe, Paulina; Mengel, Eugen; Scarpa, Maurizio; Senates, Ebubekir; Tchan, Michel; Thurberg, Beth L.; Villarrubia, Jesus; Armstrong, Nicole M.; Bhushan, Shashi; Kim, Yong; Kumar, Monica
Fast and controlled access to tofersen for SOD1-related amyotrophic lateral sclerosis in The Netherlands; experiences using the orphan drug access protocol

快速且可控地获取托弗森以治疗荷兰的SOD1相关肌萎缩侧索硬化症；使用罕见病药物获取协议的经验

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
IF2.8
2026-04-130
PRE
Sean W. Willemse; Carla E.M. Hollak; Niels D. Reijnhout; Carelle C. Reparon-Schuijt; Anke A.M.G. Pisters-van Roy; Koen C. Demaegd; Ruben P.A. van Eijk; Leonard H. van Den Berg; Michael A van Es
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy

ARSA变体与认知能力下降及异染性脑白质营养不良中运动功能的长期维持相关

Journal of Inherited Metabolic Disease
IF3.8
2025-08-020
OA
Shanice Beerepoot; Daphne H. Schoenmakers; Francesca Fumagalli; Samuel Groeschel; Ludger Schöls; Raphael Schiffmann; Sheila Wong; Odile Boespflug-Tanguy; Caroline Sevin; Yann Nadjar; Annette Bley; Fanny Mochel; Morten A. Horn; Cristina Baldoli; Sara Locatelli; Holger Hengel; Lucia Laugwitz; Carla E. M. Hollak; Volkmar Gieselmann; Marjo S. van der Knaap; Nicole I. Wolf

研究方向

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J
Johannes M. F. G. Aerts
H 指数:94论文数:610被引数:2.8万
G
Gabor E. Linthorst
H 指数:45论文数:177被引数:1.0万
M
Mirjam Langeveld
H 指数:29论文数:125被引数:2,412
M
Marieke Biegstraaten
H 指数:20论文数:61被引数:2,188
A
Annet M. Bosch
H 指数:41论文数:189被引数:6,976
F
Frits A. Wijburg
H 指数:73论文数:413被引数:1.8万
D
Derralynn Hughes
H 指数:74论文数:665被引数:1.8万
L
Laura van Dussen
H 指数:19论文数:44被引数:1,319
J
J.E.M. Groener
H 指数:44论文数:132被引数:7,166
F
Frédéric M. Vaz
H 指数:61论文数:383被引数:1.5万