Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
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Gaucher disease treatment: a Brazilian consensus [PDF]
, 2003 Gaucher disease is one of the inborn errors of metabolism from lysossomal storage diseases and the most frequent of this group. It iss an autosomal recessive disease with reoccurrence risk of 25% in each pregnancy of hetrozygotes parents.
Aranda, Paulo C. +13 more
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The dipole potential correlates with lipid raft markers in the plasma membrane of living cells [PDF]
, 2019 K
Batta, Gyula +4 more
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Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]
, 2017 The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria +5 more
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Generating health technology assessment evidence for rare diseases [PDF]
, 2014 Objectives: Rare diseases are often heterogeneous in their progression and response to treatment, with only a small population for study. This provides challenges for evidence generation to support HTA, so novel research methods are required.
Facey, Karen +6 more
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Amiodarone-Induced Pulmonary Toxicity - A Frequently Missed Complication. [PDF]
, 2016 IntroductionAmiodarone is often used in the suppression of tachyarrhythmias. One of the more serious adverse effects includes amiodarone pulmonary toxicity (APT).
Dang, Natasha +4 more
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Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. [PDF]
, 2016 Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries.
Amato, Dominick J +9 more
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Bone events and evolution of biologic markers in Gaucher disease before and during treatment [PDF]
, 2010 25 pagesInternational audienceINTRODUCTION : Known biomarkers of Gaucher-disease activity are platelets, chitotriosidase, angiotensin-converting enzyme (ACE), tartrate-resistant acid phosphatase (TRAP) and ferritin.
Jerome Stirnemann +5 more
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MissForest - nonparametric missing value imputation for mixed-type data
, 2011 Modern data acquisition based on high-throughput technology is often facing the problem of missing data. Algorithms commonly used in the analysis of such large-scale data often depend on a complete set.
D. J. Stekhoven +11 more
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Remodeling the Proteostasis Network to Rescue Glucocerebrosidase Variants by Inhibiting ER-Associated Degradation and Enhancing ER Folding [PDF]
, 2013 Gaucher’s disease (GD) is characterized by loss of lysosomal glucocerebrosidase (GC) activity. Mutations in the gene encoding GC destabilize the protein’s native folding leading to ER-associated degradation (ERAD) of the misfolded enzyme.
AH Futerman +46 more
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