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'학술논문'
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1~20
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18-month Double-blind, Randomized, Placebo-controlled, Multicenter, Phase 3 Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann -Pick Type C Disease and in Late-infantile and Juvenile-onset Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
Report
Evaluation of Biochemical Markers and Clinical Investigation of Niemann -Pick Disease, Type C
Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes inNiemann -Pick Disease, Type C1. JAMA Neurol. 2020 Dec 1;77(12):1564-1568. doi: 10.1001/jamaneurol.2020.3241.
FarmerC , Lewis M, Farhat N, Robbins KP, Joseph L, Albert OK, Bianconi S, Hoffmann A, Giserman-Kiss I, Alexander DM, Thurm A, Porter FD, Kravis EB. Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann -Pick Disease Type C Clinical Severity Scale. J Child Neurol. 2026 Jan;41(1):43-53. doi: 10.1177/08830738251346348. Epub 2025 Jun 17.
Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD. Identification of cerebral spinal fluid protein biomarkers inNiemann -Pick disease, type C1. Biomark Res. 2023 Jan 31;11(1):14. doi: 10.1186/s40364-023-00448-x.
Solomon BI, Munoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Phenotypic expression of swallowing function inNiemann -Pick disease type C1. Orphanet J Rare Dis. 2022 Sep 5;17(1):342. doi: 10.1186/s13023-022-02472-w.
Thurm A, ChlebowskiC , Joseph L, Farmer C , Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann -Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul;41(5):388-396. doi: 10.1097/DBP.0000000000000785.
Solomon BI, Smith AC, Sinaii N, Farhat N, King MC, Machielse L, Porter FD. Association of Miglustat With Swallowing Outcomes in
Farmer
Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD. Identification of cerebral spinal fluid protein biomarkers in
Solomon BI, Munoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD. Phenotypic expression of swallowing function in
Thurm A, Chlebowski
Report
Establishment of Genomic and Phenotypic Database for Niemann -Pick Disease, Type C
Report
18-month Double-blind, Randomized, Placebo-controlled, Multicenter, Phase 3 Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann -Pick Type C Disease and in Late-infantile and Juvenile-onset Forms of GM1 Gangliosidosis or GM2 Gangliosidosis
Report
Open-label Study to Evaluate the Long-term Safety, Tolerability, Pharmacokinetics and Efficacy of Nizubaglustat (AZ-3102) in Patients With GM2 Gangliosidosis or Niemann -Pick Type C Disease, With or Without Previous Administration of Miglustat
Report
Phase 1/2a Study of 2-Hydroxypropyl-Beta-Cyclodextrin Therapy for Infantile Liver Disease Associated With Niemann -Pick Disease, Type C
Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression inNiemann -Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14;390(10104):1758-1768. doi: 10.1016/S0140-6736(17)31465-4. Epub 2017 Aug 10.
Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in
Academic Journal
Vikas Anil Gujjala; Morteza Abyadeh; Isaiah Klimek; Alexander Tyshkovskiy; Naci Oz; José Pedro Castro; Vadim N. Gladyshev; Jason Newton; Alaattin Kaya
Neural Regeneration Research, Vol 21, Iss 6, Pp 2531-2542 (2026)
Report
Effects of N-Acetyl-L-Leucine on Niemann -Pick Disease Type C (NPC): A Phase III, Randomized, Placebo-controlled, Double-blind, Crossover Study
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Efficacy and safety of N-acetyl-L-leucine inNiemann -Pick disease type C . J Neurol. 2022 Mar;269(3):1651-1662. doi: 10.1007/s00415-021-10717-0. Epub 2021 Aug 13.
Kaya E, Smith DA, SmithC , Morris L, Bremova-Ertl T, Cortina-Borja M, Fineran P, Morten KJ, Poulton J, Boland B, Spencer J, Strupp M, Platt FM. Acetyl-leucine slows disease progression in lysosomal storage disorders. Brain Commun. 2020 Dec 20;3(1):fcaa148. doi: 10.1093/braincomms/fcaa148. eCollection 2021.
Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I DaliC , Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM. Annual severity increment score as a tool for stratifying patients with Niemann -Pick disease type C and for recruitment to clinical trials. Orphanet J Rare Dis. 2018 Aug 16;13(1):143. doi: 10.1186/s13023-018-0880-9.
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolnikova M, Park J, Reichmannova S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients WithNiemann -Pick Disease Type C . Neurology. 2025 Jul;105(1):e213589. doi: 10.1212/WNL.0000000000213589. Epub 2025 Jun 13.
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannova S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Trial of N-Acetyl-l-Leucine inNiemann -Pick Disease Type C . N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151.
Bremova-Ertl T, Claassen J, Foltan T, Gascon-Bayarri J, Gissen P, Hahn A, Hassan A, Hennig A, Jones SA, Kolnikova M, Martakis K, Raethjen J, Ramaswami U, Sharma R, Schneider SA. Efficacy and safety of N-acetyl-L-leucine in
Kaya E, Smith DA, Smith
Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali
Patterson MC, Ramaswami U, Donald A, Foltan T, Gautschi M, Gissen P, Hahn A, Jones SA, Kay R, Kolnikova M, Park J, Reichmannova S, Walterfang M, Wibawa P, Rohrbach M, Martakis K, Bremova-Ertl T. Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With
Bremova-Ertl T, Ramaswami U, Brands M, Foltan T, Gautschi M, Gissen P, Gowing F, Hahn A, Jones S, Kay R, Kolnikova M, Arash-Kaps L, Marquardt T, Mengel E, Park JH, Reichmannova S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Trial of N-Acetyl-l-Leucine in
Report
Randomized, Double Blind, Placebo Controlled, Multicenter, 12 Weeks Phase 2 Study to Evaluate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Oral AZ-3102 in Patients with GM2 Gangliosidosis or Niemann -Pick Type C Disease
Academic Journal
Frontiers in Cellular Neuroscience, Vol 19 (2026)
Report
A Phase II Randomized Controlled Study of Miglustat in Adult and Juvenile Patients With Niemann -Pick Type C Disease
Academic Journal
Frontiers in Immunology, Vol 17 (2026)
Academic Journal
Parvaneh Karimzadeh; Farzad Ahmadabadi; Vahide Zeinali; Sharareh Kamfar; Mahmoud Reza Ashrafi; Ali Reza Tavasoli; Seyed Hassan Tonekaboni; Faezeh Ghanaati
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-8 (2025)
Academic Journal
Yusei Yamada; Mayuko Tanaka; Yusei Ikeda; Yuki Kondo; Toru Takeo; Naomi Nakagata; Toru Miwa; Hiroki Takeda; Yorihisa Orita; Keiichi Motoyama; Taishi Higashi; Hidetoshi Arima; Takahiro Seki; Yuki Kurauchi; Hiroshi Katsuki; Katsumi Higaki; Kotaro Matsusaka; Kentaro Minami; Naoki Yoshikawa; Ryuji Ikeda; Muneaki Matsuo; Tetsumi Irie; Yoichi Ishitsuka
Scientific Reports, Vol 15, Iss 1, Pp 1-10 (2025)
Report
Arimoclomol Prospective Double-blind, Randomised, Placebo-controlled Study in Patients Diagnosed With Niemann -Pick Disease Type C
Patterson MC, Lloyd-Price L, GuldbergC , Doll H, Burbridge C , Chladek M, iDali C , Mengel E, Symonds T. Validation of the 5-domain Niemann -Pick type C Clinical Severity Scale. Orphanet J Rare Dis. 2021 Feb 12;16(1):79. doi: 10.1186/s13023-021-01719-2.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Harmatz P, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsoe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, I DaliC . Efficacy and safety of arimoclomol in Niemann -Pick disease type C : Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7.
Patterson MC, Lloyd-Price L, Guldberg
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Gronborg S, Harmatz P, Heron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsoe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, I Dali
Academic Journal
《尼曼-匹克病C型诊疗中国专家共识》制订组; 肖波; Work Group of Chinese Expert Consensus on Diagnosis and Treatment of Niemann-Pick Disease Type C; XIAO Bo
国际神经病学神经外科学杂志 / Journal of International Neurology and Neurosurgery. 51(5):51-60
Academic Journal
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-10 (2025)
Academic Journal
Lipids in Health and Disease, Vol 24, Iss 1, Pp 1-18 (2025)
Academic Journal
Eugen Mengel; Marc C. Patterson; 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; Agathe Roubertie; Saikat Santra; Anna Tylki-Szymanska; Lisa LaGorio; Elizabeth Berry-Kravis; Forbes D. Porter; Beth Solomon; Louise Himmelstrup; Travis Mickle; Sven Guenther; Christine í Dali
Molecular Genetics and Metabolism Reports, Vol 43, Iss , Pp 101233- (2025)
Academic Journal
Marcela L. Almeida; Carolina A. R. Funayama; Wilson Marques; Carla A. C. T. Caldas; Charles M. Lourenço; Ana P. A. Hamad; Guillermo A. A. Traslaviña
Journal of Inborn Errors of Metabolism and Screening, Vol 13 (2025)
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제한된 항목
[검색어] Niemann, C.
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