Proteomic analysis in morquio a cells treated with immobilized enzymatic replacement therapy on nanostructured lipid systems [PDF]
, 2019 [ENG]Morquio A syndrome, or mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disease due to mutations in the N-acetylgalactosamine-6-sulfatase (GALNS) gene.
Bravo López, Susana Belén +8 more
core +1 more source
Síndrome de Morquio, una afección infrecuente [PDF]
, 2020 Introducción: el síndrome de Morquio es una rara enfermedad hereditaria autosómica recesiva, caracterizada por la presencia de un trastorno del metabolismo de los glúcidos, generando disminución de la calidad de vida.
Crespo Vallejo, Deyssy Viviana +2 more
core +2 more sources
Long-term Immunogenicity of Elosulfase Alfa in the Treatment of Morquio A Syndrome: Results From MOR-005, a Phase III Extension Study [PDF]
Clinical Therapeutics, 2017 Elosulfase alfa is an enzyme replacement therapy for the treatment of Morquio A syndrome (mucopolysaccharidosis IVA), a lysosomal storage disorder caused by a deficiency of the enzyme N-acetylgalactose-amine-6-sulfatase. We previously reported immunogenicity data from our 24-week placebo-controlled Phase III study, MOR-004.
Long, Brian +8 more
openaire +2 more sources
Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease [PDF]
, 2018 Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene.
Caciotti, Anna +12 more
core +4 more sources
MoleculesMorquio A syndrome is a lysosomal disorder caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine 6-sulfatase (GALNS, EC 3.1.6.4).
Maria Giulia Davighi +8 more
doaj +1 more source
Dictamen Preliminar de Evaluación de Tecnología Sanitaria N° 001-SDEPFYOTS-DETS-IETSI-2018. Eficacia y seguridad de elosulfasa alfa en el tratamiento de pacientes con diagnóstico de mucopolisacaridosis IV A [PDF]
, 2018 En este documento se plasma la evaluación de la eficacia y seguridad del uso del producto farmacéutico elosulfasa alfa en el tratamiento de pacientes con diagnóstico de mucopolisacaridosis IV A; cuyos resultados sustentaron la no aprobación del uso de ...
Castro Reyes, Maribel Marilú +5 more
core
Orphan drugs of personalized medicine in Bulgaria and their cost-effectiveness [PDF]
, 2020 The orphan drugs development is related to the progress of personalized medicine. The relationship between them is based on a treatment tailored to personalized patient needs.
Stoykova-Valcheva, Zhaklin
core +1 more source
Enzyme Replacement Therapies for Lysosomal Storage Diseases [PDF]
, 2018 Lysosomal Storage Disorders (LSDs): Genetic; Rare; Autosomal recessive (majority). Portugal - 1/4000; Almost 70!. The concept of enzyme replacement as a potential therapeutic approach to ameliorate lysosomal storage disorders (LSDs) is virtually as old ...
Coutinho, Maria Francisca
core
Mucopolysaccharidoses : otorhinolaryngologic manifestations and management [PDF]
, 2017 Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017The mucopolysaccharidoses (MPS) belong to a group of rare lysosomal storage diseases and are caused by a deficiency in enzymes involved in the ...
Portugal, Ana Rita Duarte Serejo Alcobia
core
Disagreements Within the US Food and Drug Administration Regarding Approval of Novel Therapeutic Agents, 2011-2015 [PDF]
, 2020 Thirty days after a novel therapeutic agent, a new molecular entity, or original biologic is approved, the US Food and Drug Administration (FDA) must publicly disclose its approval package, including scientific reviews completed by FDA disciplines (eg ...
Herder, Matthew +4 more
core +1 more source