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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1983 1
1984 1
1989 1
1992 2
1993 1
1994 2
1995 1
1996 1
1997 4
1998 2
1999 1
2001 4
2002 2
2003 2
2005 1
2006 5
2007 2
2008 1
2009 12
2010 11
2011 6
2012 14
2013 12
2014 13
2015 16
2016 18
2017 19
2018 14
2019 20
2020 21
2021 15
2022 14
2023 10
2024 2

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218 results

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Page 1
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
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, Reichmannová S, Schneider SA, Sivananthan S, Walterfang M, Wibawa P, Strupp M, Martakis K. Bremova-Ertl T, et al. N Engl J Med. 2024 Feb 1;390(5):421-431. doi: 10.1056/NEJMoa2310151. N Engl J Med. 2024. PMID: 38294974 Clinical Trial.
BACKGROUND: Niemann-Pick disease type C is a rare lysosomal storage disorder. ...A longer period is needed to determine the long-term effects of this agent in patients with Niemann-Pick disease type C. (Funded …
BACKGROUND: Niemann-Pick disease type C is a rare lysosomal storage disorder. ...A longer period is neede …
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.
Mengel E, Patterson MC, Da Riol RM, Del Toro M, Deodato F, Gautschi M, Grunewald S, Grønborg S, Harmatz P, Héron B, Maier EM, Roubertie A, Santra S, Tylki-Szymanska A, Day S, Andreasen AK, Geist MA, Havnsøe Torp Petersen N, Ingemann L, Hansen T, Blaettler T, Kirkegaard T, Í Dali C. Mengel E, et al. J Inherit Metab Dis. 2021 Nov;44(6):1463-1480. doi: 10.1002/jimd.12428. Epub 2021 Sep 7. J Inherit Metab Dis. 2021. PMID: 34418116 Free PMC article. Clinical Trial.
Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high unmet medical need. ...
Niemann-Pick disease type C (NPC) is a rare, genetic, progressive neurodegenerative disorder with high un …
Niemann-Pick diseases.
Vanier MT. Vanier MT. Handb Clin Neurol. 2013;113:1717-21. doi: 10.1016/B978-0-444-59565-2.00041-1. Handb Clin Neurol. 2013. PMID: 23622394 Review.
The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-deficient NPD) resulting from mutations in the SMPD1 gene and encompassing type A and type B as well as intermediate forms; (2) Niemann- …
The Niemann-Pick disease group is now divided into two distinct entities: (1) acid sphingomyelinase-deficient Niemann-Pick disease (ASM-defi …
Niemann-Pick disease, type C and Roscoe Brady.
Patterson MC, Walkley SU. Patterson MC, et al. Mol Genet Metab. 2017 Jan-Feb;120(1-2):34-37. doi: 10.1016/j.ymgme.2016.11.008. Epub 2016 Nov 29. Mol Genet Metab. 2017. PMID: 27923544 Review.
These led initially to identification of the cholesterol trafficking defect in the mouse, and then in human Niemann-Pick disease, type C (NPC). This discovery formed the basis of the standard diagnostic test for NPC for the next three decades. . …
These led initially to identification of the cholesterol trafficking defect in the mouse, and then in human Niemann-Pick di …
Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC. Pineda M, et al. Orphanet J Rare Dis. 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. Orphanet J Rare Dis. 2018. PMID: 30111334 Free PMC article. Review.
OBJECTIVE: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease associated with a wide variety of progressive neurological manifestations. ...
OBJECTIVE: Niemann-Pick disease type C (NP-C) is a rare, autosomal recessive, neurodegenerative disease a …
N-acetyl-L-leucine for Niemann-Pick type C: a multinational double-blind randomized placebo-controlled crossover study.
Fields T, M Bremova T, Billington I, Churchill GC, Evans W, Fields C, Galione A, Kay R, Mathieson T, Martakis K, Patterson M, Platt F, Factor M, Strupp M. Fields T, et al. Trials. 2023 May 29;24(1):361. doi: 10.1186/s13063-023-07399-6. Trials. 2023. PMID: 37248494 Free PMC article. Clinical Trial.
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal disease characterized by multiple symptoms such as progressive cerebellar ataxia and cognitive decline. ...
BACKGROUND: Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal d …
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.
Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM. Miao N, et al. J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378675 Free PMC article. Review.
Niemann-Pick disease type C, an autosomal recessive lysosomal storage disorder, can present with severe visceral and neurologic involvement and is associated with a significant decrease in life expectancy. As little is known about anesthetic con …
Niemann-Pick disease type C, an autosomal recessive lysosomal storage disorder, can present with severe v …
Spectrum of Movement Disorders in Niemann-Pick Disease Type C.
Devaraj R, Mahale RR, Sindhu DM, Stezin A, Kamble N, Holla VV, Netravathi M, Yadav R, Pal PK. Devaraj R, et al. Tremor Other Hyperkinet Mov (N Y). 2022 Sep 8;12:28. doi: 10.5334/tohm.701. eCollection 2022. Tremor Other Hyperkinet Mov (N Y). 2022. PMID: 36187872 Free PMC article.
INTRODUCTION: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder caused by mutations in the NPC 1 or 2 genes. ...
INTRODUCTION: Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage dis …
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Papandreou A, Doykov I, Spiewak J, Komarov N, Habermann S, Kurian MA, Mills PB, Mills K, Gissen P, Heywood WE; Clinical cohort recruitment and characterization group. Papandreou A, et al. Dev Med Child Neurol. 2022 Dec;64(12):1539-1546. doi: 10.1111/dmcn.15334. Epub 2022 Jul 14. Dev Med Child Neurol. 2022. PMID: 35833379 Free PMC article.
218 results