Results 81 to 90 of about 5,931 (183)

Pseudotyping exosomes for enhanced protein delivery in mammalian cells. [PDF]

, 2017
Exosomes are cell-derived nanovesicles that hold promise as living vehicles for intracellular delivery of therapeutics to mammalian cells. This potential, however, is undermined by the lack of effective methods to load exosomes with therapeutic proteins ...
Li, Lingxuan, Losacco, Joseph, Lu, Biao, Marriott, Gerard, Meyer, Conary, Stickney, Zachary   +5 more
core  

Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

BMC Research Notes, 2019
Objective To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.
D. Hettiarachchi, V. H. W. Dissanayake
doaj   +1 more source

Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome. [PDF]

, 2013
iskott-Aldrich syndrome (WAS) is an inherited immunodeficiency caused by mutations in the gene encoding WASP, a protein regulating the cytoskeleton. Hematopoietic stem/progenitor cell (HSPC) transplants can be curative, but, when matched donors are ...
Aiuti, A, Assanelli, A, Banerjee, PP, Baricordi, C, Benati, C, Biasco, L, Biffi, A, Bosticardo, M, Calabria, A, Callegaro, L, Casiraghi, M, Castiello, MC, Cicalese, MP, Ciceri, F, Di Nunzio, S, Di Serio, C, Dionisio, F, Dow, DJ, Evangelio, C, Ferrua, F, Finocchi, A, Galimberti, S, Galy, A, Gardner, J, Giannelli, S, Mehta, N, Metin, A, Miniero, R, Montini, E, Naldini,L, Neduva, V, Orange, JS, Pellin, D, Rizzardi, P, Roncarolo, MG, Scaramuzza, S, Schmidt, M, Valsecchi, MG, Villa, A, Von Kalle, C   +39 more
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Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects [PDF]

, 2012
Non
Abdelhedi Miled, Ilhem Barboura, Irène Maire, Salima Ferchichi   +3 more
core   +1 more source

Mesenchymal stem cells and their use as cell replacement therapy and disease modelling tool. [PDF]

, 2008
Mesenchymal stem cells (MSCs) from adult somatic tissues may differentiate in vitro and in vivo into multiple mesodermal tissues including bone, cartilage, adipose tissue, tendon, ligament or even muscle. MSCs preferentially home to damaged tissues where
García-Castro, J, Madrenas, J, Menendez, P, Pérez-Simón, JA, Rodriguez, R, Trigueros, C   +5 more
core  

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source

Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy

Annals of Indian Academy of Neurology, 2004
A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy ...
Taly AB, Santosh V, Balamurugan N, Arunodaya GR, Christopher R, Jayakumar PN   +5 more
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Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia [PDF]

, 2015
BACKGROUND: This study was conducted to describe the clinical and genetic features of patients with late infantile metachromatic leukodystrophy. METHODS: Clinical and genetic manifestations of five Taiwanese patients with late infantile metachromatic ...
Chi-Ren Tsai, Ching-Shiang Chi, Hsiang-Ru Liaw, Hsiu-Fen Lee   +3 more
core   +1 more source

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy

Frontiers in Endocrinology, 2018
Metachromatic leucodystrophy (MLD) is a rare inherited lysosomal disorder caused by reduced activity of the enzyme arylsulfatase A with accumulation of sulfatides in the nervous system.
Gilda Belli, Emanuele Bartolini, Emanuele Bartolini, Andrea Bianchi, Mario Mascalchi, Mario Mascalchi, Stefano Stagi   +6 more
doaj   +1 more source

The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric patients [PDF]

, 2015
How to Cite This Article: Jabbehdari S, Rahimian E, Jafari N, Sanii S, Khayatzadeh Kakhki S, Nejad Biglari H. The Clinical Features and Diagnosis of Metachromatic Leukodystrophy: A Case Series of Iranian Pediatric Patients. Iran J Child Neurol.
JABBEDARI, Sayena, JAFARI, Narjes, KHAYATZADEH KAKHKI, Simin, NEJAD BIGLARI, Habibe, RAHIMIAN, Elham, SANII, Sara   +5 more
core   +2 more sources