Browsing Research Articles (Paediatrics and Child Health) by Subject "Enzyme replacement therapy (ERT)"
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Browsing Research Articles (Paediatrics and Child Health) by Subject "Enzyme replacement therapy (ERT)"
Now showing items 1-8 of 8
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(Elsevier (open access), 2016-08)OBJECTIVES : To gain insight into the frequency, age of onset, and management of cervical cord compression in mucopolysaccharidosis VI (MPS VI). METHODS : Cervical spine magnetic resonance imaging (MRI) data and/or cervical ...
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(Elsevier, 2019-09)INTRODUCTION: Alpha-mannosidosis is an ultra-rare lysosomal storage disorder resulting from the deficient activity of lysosomal alpha-mannosidase. Alpha-mannosidosis presents as a highly heterogenous condition with large ...
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(Elsevier, 2018-06)Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births. The resulting accumulation of ...
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(Elsevier, 2018-02)BACKGROUND : Long-term safety and efficacy of elosulfase alfa enzyme replacement therapy (ERT) were assessed in 173 patients with Morquio A syndrome (mucopolysaccharidosis IVA) in a 96-week, open-label, multi-center, phase ...
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(Elsevier, 2017-12)BACKGROUND : Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes ...
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(Elsevier, 2016-01)Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in ...
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(BioMed Central (BMC), 2019-06)INTRODUCTION: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs ...
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(Elsevier, 2017-12)Port-a-cath is a widely used device in patients with long-term venous access demand such as frequent or continuous administration of medications such as Enzyme Replacement Therapy (ERT), chemotherapy delivery, blood ...
Now showing items 1-8 of 8