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Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

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Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. / van der Lee, Johanna H; Morton, Jonathan; Adams, Heather R; Clarke, Lorne; Eisengart, Julie B; Escolar, Maria L; Giugliani, Roberto; Harmatz, Paul; Hogan, Melissa; Kearney, Shauna; Muenzer, Joseph; Muschol, Nicole; Rust, Stewart; Saville, Benjamin R; Semrud-Clikeman, Margaret; Wang, Raymond; Shapiro, Elsa.

in: MOL GENET METAB, Jahrgang 131, Nr. 1-2, 13.09.2020, S. 181-196.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

van der Lee, JH, Morton, J, Adams, HR, Clarke, L, Eisengart, JB, Escolar, ML, Giugliani, R, Harmatz, P, Hogan, M, Kearney, S, Muenzer, J, Muschol, N, Rust, S, Saville, BR, Semrud-Clikeman, M, Wang, R & Shapiro, E 2020, 'Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints', MOL GENET METAB, Jg. 131, Nr. 1-2, S. 181-196. https://doi.org/10.1016/j.ymgme.2020.08.007

APA

van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Eisengart, J. B., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Kearney, S., Muenzer, J., Muschol, N., Rust, S., Saville, B. R., Semrud-Clikeman, M., Wang, R., & Shapiro, E. (2020). Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. MOL GENET METAB, 131(1-2), 181-196. https://doi.org/10.1016/j.ymgme.2020.08.007

Vancouver

van der Lee JH, Morton J, Adams HR, Clarke L, Eisengart JB, Escolar ML et al. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. MOL GENET METAB. 2020 Sep 13;131(1-2):181-196. https://doi.org/10.1016/j.ymgme.2020.08.007

Bibtex

@article{d5893fd46bc94e3d83907d8152d0f136,
title = "Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints",
abstract = "Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.",
author = "{van der Lee}, {Johanna H} and Jonathan Morton and Adams, {Heather R} and Lorne Clarke and Eisengart, {Julie B} and Escolar, {Maria L} and Roberto Giugliani and Paul Harmatz and Melissa Hogan and Shauna Kearney and Joseph Muenzer and Nicole Muschol and Stewart Rust and Saville, {Benjamin R} and Margaret Semrud-Clikeman and Raymond Wang and Elsa Shapiro",
note = "Copyright {\textcopyright} 2020 The Authors. Published by Elsevier Inc. All rights reserved.",
year = "2020",
month = sep,
day = "13",
doi = "10.1016/j.ymgme.2020.08.007",
language = "English",
volume = "131",
pages = "181--196",
journal = "MOL GENET METAB",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

RIS

TY - JOUR

T1 - Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

AU - van der Lee, Johanna H

AU - Morton, Jonathan

AU - Adams, Heather R

AU - Clarke, Lorne

AU - Eisengart, Julie B

AU - Escolar, Maria L

AU - Giugliani, Roberto

AU - Harmatz, Paul

AU - Hogan, Melissa

AU - Kearney, Shauna

AU - Muenzer, Joseph

AU - Muschol, Nicole

AU - Rust, Stewart

AU - Saville, Benjamin R

AU - Semrud-Clikeman, Margaret

AU - Wang, Raymond

AU - Shapiro, Elsa

N1 - Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.

PY - 2020/9/13

Y1 - 2020/9/13

N2 - Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

AB - Neurological dysfunction represents a significant clinical component of many of the mucopolysaccharidoses (also known as MPS disorders). The accurate and consistent assessment of neuropsychological function is essential to gain a greater understanding of the precise natural history of these conditions and to design effective clinical trials to evaluate the impact of therapies on the brain. In 2017, an International MPS Consensus Panel published recommendations for best practice in the design and conduct of clinical studies investigating the effects of therapies on cognitive function and adaptive behavior in patients with neuronopathic mucopolysaccharidoses. Based on an International MPS Consensus Conference held in February 2020, this article provides updated consensus recommendations and expands the objectives to include approaches for assessing behavioral and social-emotional state, caregiver burden and quality of life in patients with all mucopolysaccharidoses.

U2 - 10.1016/j.ymgme.2020.08.007

DO - 10.1016/j.ymgme.2020.08.007

M3 - SCORING: Journal article

C2 - 32917509

VL - 131

SP - 181

EP - 196

JO - MOL GENET METAB

JF - MOL GENET METAB

SN - 1096-7192

IS - 1-2

ER -