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Advancing clinical insight into creatine transporter deficiency: long term outcome and new observations from the Italian cohort.
Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.
Transition in inherited metabolic diseases: the dietitians, pediatricians and adult physicians' point of view: the results of an Italian survey.
The impact of a child's inborn error of metabolism: the parents' perspectives on restrictions, discrimination, family planning, and emergency management.
Analysis of 55 patients with multiple endocrine neoplasia type 1-associated insulinoma from a single center in China.