Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America

Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): MarthaL. Solano, Alejandro Fainboim, Juan Politei, Gloria L. Porras-Hurtado, Ana Maria Martins, Carolina F. Moura Souza, Felipe Mendez Koch, Hernan Amartino, Jose Maria Satizábal, Dafne D.G. Horovitz, Paula F.V. Medeiros, Rachel S. Honjo, Charles M. Lourenço
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research

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Publication date: Available online 27 March 2020Source: Molecular Genetics and MetabolismAuthor(s): Ahmed Ayuna, Karolina M. Stepien, Christian J. Hendriksz, Matthew Balerdi, Anupam Garg, Peter Woolfson
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Abstract Rapid progress in knowledge of the organization of the dog genome has facilitated the identification of the mutations responsible for numerous monogenic diseases, which usually present a breed-specific distribution. The majority of these diseases have clinical and molecular counterparts in humans. The affected dogs have thus become valuable models for preclinical studies of gene therapy for problems such as eye diseases, immunodeficiency, lysosomal storage diseases, hemophilia, and muscular dystrophy. Successful gene therapies in dogs have significantly contributed to decisions to run clinical trials for ...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
Cardiovascular disease frequently causes morbidity and mortality in mucopolysaccharidoses (MPS); however, cardiovascular anatomy and dysfunction in MPS IVA (Morquio A disease) is not well described. Consequent...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
PMID: 32152627 [PubMed - as supplied by publisher]
Source: Endocrinology - Category: Endocrinology Authors: Tags: Endocrinology Source Type: research
This article is protected by copyright. All rights reserved. PMID: 32125037 [PubMed - as supplied by publisher]
Source: Cell Biology International - Category: Cytology Authors: Tags: Cell Biol Int Source Type: research
Background: In 1883, Ilya Mechnikov discovered phagocytes and established the concept of phagocytosis by macrophages. In 1908, he was awarded the Nobel Prize in Physiology/Medicine for his findings, which laid the foundations for today's understanding of the innate immune response. Only in the 1960s, Max Cooper and Robert Good significantly advanced our understanding of the immune system by demonstrating that B- and T-cells cooperate to regulate the adaptive immune response. Both, innate and adaptive immune response are essential to effectively protect the individual against infectious agents, such as viruses, bacterial or...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Publication date: Available online 19 February 2020Source: Molecular Genetics and MetabolismAuthor(s): Emil Kakkis, Deborah MarsdenAbstractAccumulations of glycosaminoglycans (GAGs) that result from deficiencies in lysosomal hydrolases are characteristic of mucopolysaccharidoses (MPS). Enzyme replacement therapies (ERTs) are now available for several MPS diseases (MPS I, MPS II, MPS IVA, MPS VI, and MPS VII) but assessment of the efficacy of treatment can be challenging because these are rare, progressive, and highly heterogeneous diseases; because some clinical manifestations may be irreversible if treatment initiation is...
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists' awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment. PMID: 32036849 [PubMed - in process]
Source: Acta Medica: Hradec Kralove - Category: General Medicine Tags: Acta Medica (Hradec Kralove) Source Type: research
CONCLUSION: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging. PMID: 32011835 [PubMed - as supplied by publisher]
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Publication date: February 2020Source: Molecular Genetics and Metabolism, Volume 129, Issue 2Author(s): Shunji Tomatsu, Francyne Kubaski, Molly Stapleton, Yasuyuki Suzuki, Kenji Orii, Toshiyuki Fukao
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
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