Search Results - "Solano, Martha L."
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Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome
Published in Molecular genetics and metabolism (01-09-2016)“…Long-term efficacy and safety of elosulfase alfa enzyme replacement therapy were evaluated in Morquio A patients over 96weeks (reaching 120weeks in total from…”
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Journal Article -
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Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome
Published in Molecular genetics and metabolism (01-01-2015)“…Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also…”
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Journal Article Conference Proceeding -
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Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America
Published in Journal of pain and symptom management (01-07-2018)“…The mucopolysaccharidosis (MPS) constitutes a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of…”
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Journal Article Conference Proceeding -
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Enzyme replacement therapy interruption in patients with Mucopolysaccharidoses: Recommendations for distinct scenarios in Latin America
Published in Molecular genetics and metabolism reports (01-06-2020)“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders, leading to the progressive accumulation of glycosaminoglycans (GAGs) and the subsequent…”
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Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III
Published in Journal of inborn errors of metabolism and screening (2020)“…Abstract Mucopolysaccharidosis III (MPS III) is a rare inherited metabolic disease primarily affecting the central nervous system, leading to developmental…”
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Mucopolisacaridosis: generalidades y compromiso cardiovascular
Published in Revista colombiana de cardiología (Bogotá, Colombia : 1989) (25-02-2022)Get full text
Journal Article -
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Can MPS patients be identified by facial features
Published in Molecular genetics and metabolism (01-02-2019)“…The mucopolysacharidoses (MPS) have a wide spectrum of clinical manifestations. Taking this into consideration and exploring the benefits of noninvasive…”
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Identification of MPS clusters in Latin America: An opportunity for targeted health care programs
Published in Molecular genetics and metabolism (01-02-2019)“…The mucopolysaccharidoses (MPS) include 11 rare disorders caused by deficiency of specific lysosomal enzymes resulting in the accumulation of undegraded…”
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Journal Article -
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Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A
Published in Molecular genetics and metabolism (01-02-2016)Get full text
Journal Article