Results 211 to 220 of about 90,357 (220)

An update on gene therapy for lysosomal storage disorders

Expert Opinion on Biological Therapy, 2019
Introduction: Gene therapies can be envisioned for many disorders where conventional therapies fall short. Lysosomal Storage Disorders (LSDs) are inherited, mostly monogenic, disorders resulting from deficient lysosomal enzyme or co-factor activity ...
Murtaza S. Nagree, Simone Scalia, W. McKillop, J. Medin   +3 more
semanticscholar   +1 more source

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.

Molecular Genetics and Metabolism, 2021
Y. Koto, N. Sakai, Yoko Lee, N. Kakee, J. Matsuda, K. Tsuboi, N. Shimozawa, T. Okuyama, Kimitoshi Nakamura, A. Narita, Hiroshi Kobayashi, R. Uehara, Yoshikazu Nakamura, Koji Kato, Y. Eto   +14 more
semanticscholar   +1 more source

Prevalence of lysosomal storage disorders.

Journal of the American Medical Association (JAMA), 1999
P. Meikle, J. Hopwood, A. Clague, W. Carey   +3 more
semanticscholar   +1 more source

Innate immune sensing of lysosomal dysfunction drives multiple lysosomal storage disorders

Nature Cell Biology
Ailian Wang, Chen Chen, Chen Mei, Shengduo Liu, Cong Xiang, Wen Fang, Fei Zhang, Yifan Xu, Shasha Chen, Qi Zhang, Xueli Bai, Aifu Lin, Dante Neculai, Bing Xia, Cunqi Ye, Jian Zou, Tingbo Liang, Xinhua Feng, Xinran Li, Chengyong Shen, Pinglong Xu   +20 more
semanticscholar   +1 more source

Lysosomal storage disorders affecting the heart: a review.

Cardiovascular pathology, 2019
V. Nair, E. Belanger, J. Veinot
semanticscholar   +1 more source

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Journal of Inherited Metabolic Disease, 2018
M. Piraud, Magali Pettazzoni, P. Lavoie, Séverine Ruet, Cécile Pagan, D. Cheillan, P. Latour, C. Vianey-Saban, C. Auray-Blais, R. Froissart   +9 more
semanticscholar   +1 more source

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15‐Month Experience

Jornal de Pediatria, 2017
B. Burton, J. Charrow, G. Hoganson, D. Waggoner, B. Tinkle, S. Braddock, Michael C. Schneider, D. Grange, C. Nash, Heather Shryock, Rebecca Barnett, Rong Shao, K. Basheeruddin, G. Dizikes   +13 more
semanticscholar   +1 more source

Metallothioneins are neuroprotective agents in lysosomal storage disorders

Annals of Neurology, 2018
Eleonora Cavalca, M. Cesani, Jennifer C. Gifford, M. Sena-Esteves, M. Terreni, G. Leoncini, M. Peviani, A. Biffi   +7 more
semanticscholar   +1 more source

Lysosomal Storage Disorders

Self-Assessment Questions for Clinical Molecular Genetics, 2019
Haiying Meng
semanticscholar   +1 more source

The brain lipidome in neurodegenerative lysosomal storage disorders.

Biochemical and Biophysical Research Communications - BBRC, 2018
M. Fuller, A. Futerman
semanticscholar   +1 more source