Article

Enzyme Replacement Therapy in Mucopolysaccharidosis Type VII: A Three-year Clinical Outcome Study of the First Taiwanese Case

2024-12-17

Abstract excerpt

<h4>Background: </h4> Mucopolysaccharidosis type VII (MPS VII), an ultrarare lysosomal storage disorder caused by β-glucuronidase deficiency, presents significant therapeutic challenges. Here, we report a 3-year follow-up on the outcomes of enzyme replacement therapy (ERT) in the first Taiwanese case of MPS VII. <h4>Methods:</h4> The patient, who initially presented with hydrops fetalis and developmental delay, wa...

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Literature Corpus work: e516983c-2d97-5beb-9c51-e44524cf0b88
DOI: 10.20944/preprints202412.1346.v1

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