Results 161 to 170 of about 58,222 (243)

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry [PDF]

, 2016
Silvia Tortorelli, Coleman Turgeon, Dimitar K. Gavrilov, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Dietrich Matern   +6 more
openalex   +1 more source

Biomarkers for gene therapy clinical trials of lysosomal storage disorders [PDF]

Alessandro Rossi, Sabrina Malvagia, Giancarlo la Marca, Giancarlo Parenti, Nicola Brunetti‐Pierri   +4 more
openalex   +1 more source

Reply: Lysosomal storage disorder gene variants in multiple system atrophy [PDF]

, 2018
Joshua M. Shulman
openalex   +1 more source

New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders

, 2022
Linda Rossini, Caterina Durante, Antonio Marzollo, Alessandra Biffi   +3 more
openalex   +1 more source

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +1 more source

Epigenetic landscape in lysosomal storage disorders: mechanisms and modulation [PDF]

Andrés Felipe Leal, Harry Pachajoa, Shunji Tomatsu   +2 more
openalex   +1 more source

Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.

American Journal of Human Genetics, 1999
D. Sleat, R. Gin, I. Sohar, K. Wisniewski, S. Sklower-Brooks, R. Pullarkat, D. Palmer, T. Lerner, R. Boustany, P. Uldall, A. Siakotos, R. Donnelly, P. Lobel   +12 more
semanticscholar   +1 more source

A novel transgenic mouse model of lysosomal storage disorder.

Am J Physiol Gastrointest Liver Physiol, 2016
Ortiz-Miranda S, Ji R, Jurczyk A, Aryee KE, Mo S, Fletcher T, Shaffer SA, Greiner DL, Bortell R, Gregg RG, Cheng A, Hennings LJ, Rittenhouse AR.   +12 more
europepmc   +1 more source

D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders [PDF]

Maria De Risi, Linda Cusimano, Xabier Bujanda Cundin, Mariateresa Pizzo, Ylenia Gigante, Mariagrazia Monaco, Chiara Di Eugenio, Elvira De Leonibus   +7 more
openalex   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions. [PDF]

Traffic
Jiang S, Fu J, Li S, Li Z, Zhao Q, Yin Y, Yang M, Wang Y.   +7 more
europepmc   +1 more source