Results 81 to 90 of about 90,357 (220)

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

Orphanet Journal of Rare Diseases
Background Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucocerebrosidase, respectively, and often require life-long
Shoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Ozlem Goker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha   +11 more
doaj   +1 more source

Phenotype Correction in Murine Mucopolysaccharidosis Type VII by Transplantation of Human Amniotic Epithelial Cells after Adenovirus-Mediated Gene Transfer

Cell Transplantation, 2000
Cell therapy with human amniotic epithelial (HAE) cells was developed as an alternative method for enzyme replacement therapy in congenital lysosomal storage disorders, but only limited therapeutic efficacy has been reported.
Motomichi Kosuga, Satori Takahashi, Kyoko Sasaki, Shin Enosawa, Xiao-Kang Li, Sanae Okuyama, Masayuki Fujino, Seiichi Suzuki, Masao Yamada, Nobutake Matsuo, Norio Sakuragawa, Torayuki Okuyama   +11 more
doaj   +1 more source

Differentiation of norm and pathology during selective biochemical skreening of lysosomal storage diseases with increased excretion of oligosaccharides [PDF]

The Ukrainian Biochemical Journal, 2015
Oligosaccharides are a class of polymeric carbohydrates, which are constituents of a glycoside portion of glycoprotein and glycolipid molecules. The lysosomal hydrolase dysfunction due to lysosomal storage disorders results in partial or complete failure
N. Y. Mytsyk, N. V. Olkhovych, N. G. Gorovenko   +2 more
doaj   +1 more source

The rapidly evolving view of lysosomal storage diseases

EMBO Molecular Medicine, 2021
Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of several components of lysosomal function. Most commonly affected are lysosomal hydrolases, which are involved in the breakdown and recycling of a variety of complex ...
Giancarlo Parenti, Diego L Medina, Andrea Ballabio   +2 more
doaj   +1 more source

Lysosomal storage disorders: pathology within the lysosome and beyond

Journal of Neurochemistry, 2019
This Preface introduces the articles of the special issue on “Lysosomal Storage Disorders” in which several recognized experts provide an overview of this research field.
T. Kielian
semanticscholar   +1 more source

Changes in Angiogenesis and Bone Turnover Markers in Patients with Gaucher Disease Developing Osteonecrosis

Metabolites
Background/Objectives: Patients with Gaucher disease have a high risk of bone disease, with osteonecrosis representing the most debilitating complication. The pathogenesis of osteonecrosis has not been fully elucidated yet, and there is an unmet need for
Simona D’Amore, Kenneth Eric Poole, Uma Ramaswami, Derralynn Hughes, Kathleen Page, Antonio Giovanni Solimando, Angelo Vacca, Timothy Martin Cox, Patrick Deegan   +8 more
doaj   +1 more source

Lysosome

Journal of Inborn Errors of Metabolism and Screening, 2016
Since Christian de Duve first described the lysosome in the 1950s, it has been generally presented as a membrane-bound compartment containing acid hydrolases that enables the cell to degrade molecules without being digested by autolysis.
Ursula Matte BSc, PhD, Gabriela Pasqualim BSc, MSc   +1 more
doaj   +1 more source

One special question to start with: can HIF/NFkB be a target in inflammation? [PDF]

, 2015
Hypoxia and Inflammation are strictly interconnected with important consequences at clinical and therapeutic level. While cell and tissue damage due to acute hypoxia mostly leads to cell necrosis, in chronic hypoxia, cells that are located closer to ...
CARNEVALE, ILARIA, DE SANTIS, Elena, Limana, F, Perrone, Ga, POLLETTA, LUCIA, RUNCI, ALESSANDRA, RUSSO, Matteo Antonio, SANSONE, LUIGI, TAFANI, MARCO   +8 more
core   +1 more source

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience [PDF]

, 2010
Background: Lysosomal storage diseases (LSD) are inherited disorders caused by deficiency of lysosomal enzymes in which early diagnosis is essential to provide timely treatment.
Ana M Martins, Karen B Müller, Mayra DB Rodrigues, Vanessa G Pereira, Vânia D'Almeida   +4 more
core   +2 more sources

Incidence of 4 Lysosomal Storage Disorders From 4 Years of Newborn Screening

JAMA pediatrics, 2018
This study describes the incidence rates for 4 lysosomal storage disorders from 4 years of full-population testing of all newborns in Missouri.
Patrick V. Hopkins, Tracy L Klug, L. Vermette, Julie Raburn-Miller, Jami Kiesling, Sharmini Rogers   +5 more
semanticscholar   +1 more source