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UnknownThe European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Not available
S-EPMC11529438 | biostudies-literature
UnknownAvailability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network.
Not available
S-EPMC6945588 | biostudies-literature
UnknownAtaluren treatment of patients with nonsense mutation dystrophinopathy.
Not available
S-EPMC4241581 | biostudies-literature
UnknownThe genetic architecture of the human cerebral cortex.
Not available
S-EPMC7295264 | biostudies-literature
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