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Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.
Plasma GDF-15 and PSP-D Predict the Development of Pulmonary Arterial Hypertension in Systemic Sclerosis.
Burden of hereditary angioedema: results from a multinational survey of caregivers for adult and pediatric patients.
Health-related quality of life of children and adolescents with the most common ectodermal dysplasia: focus group study and item development for a condition-specific patient-reported outcome measure.
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.