Glycosylation shapes the efficacy and safety of diverse protein, gene and cell therapies. [PDF]
, 2023 Over recent decades, therapeutic proteins have had widespread success in treating a myriad of diseases. Glycosylation, a near universal feature of this class of drugs, is a critical quality attribute that significantly influences the physical properties,
Fuerst, Thomas +7 more
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Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type ii (hunter syndrome) [PDF]
, 2016 Background Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans.
Andriolo, Regis Bruni +3 more
core +2 more sources
Development and validation of COMPASS: clinical evidence of orphan medicinal products – an assessment tool [PDF]
, 2013 BACKGROUND: Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of 50 out of 100,000 individuals or less. Orphan medicinal products (OMPs) are intended for the treatment of rare diseases. The assessment of
Bert Aertgeerts +3 more
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International guidelines for the management and treatment of Morquio A syndrome. [PDF]
, 2014 Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired ...
Berger, Kenneth I +8 more
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Diagnosing mucopolysaccharidosis IVA [PDF]
, 2013 Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of
A Fujimoto +106 more
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Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome) [PDF]
, 2015 BACKGROUND: Twenty-eight treatment-naïve mucopolysaccharidosis II patients (16 months–7.5 years) received 0.5 mg/kg idursulfase weekly for one year in NCT00607386.
Ann J Barbier +4 more
core +1 more source
Compounded drugs as an alternative to the therapeutical gaps of inborn errors of metabolism [PDF]
, 2023 Inborn errors of metabolism are rare disorders with few therapeutic options for their treatments, which can make patients suffer with complications. Therefore, compounded drugs might be a promising option given that they have the ability of meeting the ...
Adrielle da Silva Fachini +8 more
core +2 more sources
Chronic enzyme replacement therapy ameliorates neuropathology in alpha-mannosidosis mice [PDF]
, 2015 OBJECTIVE: The lysosomal storage disease alpha‐mannosidosis is caused by the deficiency of the lysosomal acid hydrolase alpha‐mannosidase (LAMAN) leading to lysosomal accumulation of neutral mannose‐linked oligosaccharides throughout the body, including ...
Andersson, Claes +11 more
core +2 more sources
Diagnóstico e Tratamento de Doenças Lisossomais: relatório 2012 [PDF]
, 2013 Relatório anual do Grupo de Trabalho Coordenador do Diagnóstico e Tratamento de Doenças Lisossomais (GTCDTDL), relativo ao ano 2012, do qual se destaca a realização das seguintes atividades: − Discussão e avaliação de 43 casos clínicos relativos a ...
Fortuna, Ana +1 more
core
Вопросы современной педиатрииMucopolysaccharidosis type II (Hunter syndrome, MPS II) is a rare hereditary disease from the group of hereditary metabolic diseases. There are neuropathic and non-neuropathic forms of this disease. The neuropathic form is most common and leads to severe
Nataliya V. Zhurkova +3 more
doaj +1 more source