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Platelet gene signatures detecting pulmonary artery stenosis in patients with pulmonary hypertension.
Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.
Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder.
The ATP7B c.3316 G > A variant is associated with mild subphenotype in Wilson disease: a single-center cohort study.
Gastrointestinal manifestations and enzyme replacement therapy in late-onset Pompe disease: insights from a cross-sectional analysis.