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Developing an explainable machine learning model to predict false-negative citrin deficiency cases in newborn screening.
Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).
Clinical characteristics and long-term outcomes of 101 patients with urea cycle disorders in China.
Enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines.
Hypertrophic cardiomyopathy detection with artificial intelligence electrocardiography in international cohorts: an external validation study.