2018
DOI: 10.31486/toj.18.0049
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Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease

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Cited by 3 publications
(2 citation statements)
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“…7) However, it has a significant effect on most patients with IOPD, significantly prolonging the lifespan of patients. [7][8][9] Moreover, the early initiation of treatment results in best outcomes. Therefore, early diagnosis is particularly important.…”
Section: Discussionmentioning
confidence: 99%
“…7) However, it has a significant effect on most patients with IOPD, significantly prolonging the lifespan of patients. [7][8][9] Moreover, the early initiation of treatment results in best outcomes. Therefore, early diagnosis is particularly important.…”
Section: Discussionmentioning
confidence: 99%
“…Lysosomal dysfunction affects, basically, all body tissues, although its serious effects mainly concern the central nervous system, meaning that affected patients display progressive psycho-neurological impairments, accompanied by a broad spectrum of other clinical phenotypes, such as seizures, facial and other bone deformities, problems with vision and hearing, difficulty breathing, anemia and an enlarged spleen or liver [98,99]. For many LSDs, there are approved disease-specific therapies based on enzyme replacement (ERT) [100][101][102], or on intravenous administration of recombinant proteins [103][104][105], accompanied by treatment of the neurological complications, such as anticonvulsant medication, ventilatory support, assistance for patients with learning disability, orthopedic interventions and nutritional support [106,107]. Despite the good tolerability demonstrated by ERT, unfortunately, many symptoms, even after long-term treatment, are not reversible [108].…”
Section: Lysosomal Storage Diseases (Lsds)mentioning
confidence: 99%