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The same symptoms can come from very different biology: EPI is often managed with lifelong enzyme replacement, while PLE involves intestinal protein loss, swelling, and higher short-term mortality

At eight years of age, ES revealed that the patient was a compound heterozygote for pathogenic variants in GCDH, confirming a diagnosis of GA1

We present the strategy of utilizing small molecule analogs specifically designed to penetrate the blood-brain barrier and facilitate dimerization and activation of the HGF/Met receptor system

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